Foot Deformities, Acquired: Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth.Foot Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.Foot Deformities: Alterations or deviations from normal shape or size which result in a disfigurement of the foot.Foot: The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.Flatfoot: A condition in which one or more of the arches of the foot have flattened out.Clubfoot: A deformed foot in which the foot is plantarflexed, inverted and adducted.Equinus Deformity: Plantar declination of the foot.Foot Diseases: Anatomical and functional disorders affecting the foot.Forefoot, Human: The forepart of the foot including the metatarsals and the TOES.Arthropathy, Neurogenic: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)Tarsal Bones: The seven bones which form the tarsus - namely, CALCANEUS; TALUS; cuboid, navicular, and the internal, middle, and external cuneiforms.Metatarsus: The part of the foot between the tarsa and the TOES.Diabetic Foot: Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION.Hammer Toe Syndrome: A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe.Ilizarov Technique: A bone fixation technique using an external fixator (FIXATORS, EXTERNAL) for lengthening limbs, correcting pseudarthroses and other deformities, and assisting the healing of otherwise hopeless traumatic or pathological fractures and infections, such as chronic osteomyelitis. The method was devised by the Russian orthopedic surgeon Gavriil Abramovich Ilizarov (1921-1992). (From Bull Hosp Jt Dis 1992 Summer;52(1):1)Hallux Limitus: A bony proliferation and articular degeneration of the first METATARSOPHALANGEAL JOINT that is characterized by pain and a progressive decrease in the dorsiflexion range of motion.Joint Deformities, Acquired: Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Subtalar Joint: Formed by the articulation of the talus with the calcaneus.Foot Ulcer: Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy.Metatarsal Bones: The five long bones of the METATARSUS, articulating with the TARSAL BONES proximally and the PHALANGES OF TOES distally.Tendon Transfer: Surgical procedure by which a tendon is incised at its insertion and placed at an anatomical site distant from the original insertion. The tendon remains attached at the point of origin and takes over the function of a muscle inactivated by trauma or disease.Calcaneus: The largest of the TARSAL BONES which is situated at the lower and back part of the FOOT, forming the HEEL.Osteogenesis, Distraction: Bone lengthening by gradual mechanical distraction. An external fixation device produces the distraction across the bone plate. The technique was originally applied to long bones but in recent years the method has been adapted for use with mandibular implants in maxillofacial surgery.Osteotomy: The surgical cutting of a bone. (Dorland, 28th ed)Hand Deformities, Acquired: Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease.Posterior Tibial Tendon Dysfunction: A condition characterized by a broad range of progressive disorders ranging from TENOSYNOVITIS to tendon rupture with or without hindfoot collapse to a fixed, rigid, FLATFOOT deformity. Pathologic changes can involve associated tendons, ligaments, joint structures of the ANKLE, hindfoot, and midfoot. Posterior tibial tendon dysfunction is the most common cause of acquired flatfoot deformity in adults.Orthotic Devices: Apparatus used to support, align, prevent, or correct deformities or to improve the function of movable parts of the body.Diabetic Neuropathies: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)Nose Deformities, Acquired: Abnormalities of the nose acquired after birth from injury or disease.Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)Foot Injuries: General or unspecified injuries involving the foot.Spinal Curvatures: Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).Scoliosis: An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)Foot Bones: The TARSAL BONES; METATARSAL BONES; and PHALANGES OF TOES. The tarsal bones consists of seven bones: CALCANEUS; TALUS; cuboid; navicular; internal; middle; and external cuneiform bones. The five metatarsal bones are numbered one through five, running medial to lateral. There are 14 phalanges in each foot, the great toe has two while the other toes have three each.Lower Extremity Deformities, Congenital: Congenital structural abnormalities of the LOWER EXTREMITY.Kyphosis: Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.Foot Joints: The articulations extending from the ANKLE distally to the TOES. These include the ANKLE JOINT; TARSAL JOINTS; METATARSOPHALANGEAL JOINT; and TOE JOINT.Spine: The spinal or vertebral column.Hallux Valgus: Lateral displacement of the great toe (HALLUX), producing deformity of the first METATARSOPHALANGEAL JOINT with callous, bursa, or bunion formation over the bony prominence.Bone Lengthening: Increase in the longest dimension of a bone to correct anatomical deficiencies, congenital, traumatic, or as a result of disease. The lengthening is not restricted to long bones. The usual surgical methods are internal fixation and distraction.Leg Length Inequality: A condition in which one of a pair of legs fails to grow as long as the other, which could result from injury or surgery.Limb Deformities, Congenital: Congenital structural deformities of the upper and lower extremities collectively or unspecified.Bone Diseases, DevelopmentalThoracic Vertebrae: A group of twelve VERTEBRAE connected to the ribs that support the upper trunk region.ShoesOrthopedic Procedures: Procedures used to treat and correct deformities, diseases, and injuries to the MUSCULOSKELETAL SYSTEM, its articulations, and associated structures.Hand, Foot and Mouth Disease: A mild, highly infectious viral disease of children, characterized by vesicular lesions in the mouth and on the hands and feet. It is caused by coxsackieviruses A.Ear Deformities, Acquired: Distortion or disfigurement of the ear caused by disease or injury after birth.Foot Dermatoses: Skin diseases of the foot, general or unspecified.Metatarsophalangeal Joint: The articulation between a metatarsal bone (METATARSAL BONES) and a phalanx.Casts, Surgical: Dressings made of fiberglass, plastic, or bandage impregnated with plaster of paris used for immobilization of various parts of the body in cases of fractures, dislocations, and infected wounds. In comparison with plaster casts, casts made of fiberglass or plastic are lightweight, radiolucent, able to withstand moisture, and less rigid.Contracture: Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.Ribs: A set of twelve curved bones which connect to the vertebral column posteriorly, and terminate anteriorly as costal cartilage. Together, they form a protective cage around the internal thoracic organs.Funnel Chest: A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.Musculoskeletal Abnormalities: Congenital structural abnormalities and deformities of the musculoskeletal system.Range of Motion, Articular: The distance and direction to which a bone joint can be extended. Range of motion is a function of the condition of the joints, muscles, and connective tissues involved. Joint flexibility can be improved through appropriate MUSCLE STRETCHING EXERCISES.External Fixators: External devices which hold wires or pins that are placed through one or both cortices of bone in order to hold the position of a fracture in proper alignment. These devices allow easy access to wounds, adjustment during the course of healing, and more functional use of the limbs involved.Genu Valgum: An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).Splints: Rigid or flexible appliances used to maintain in position a displaced or movable part or to keep in place and protect an injured part. (Dorland, 28th ed)Tibia: The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally.Ankle Joint: The joint that is formed by the inferior articular and malleolar articular surfaces of the TIBIA; the malleolar articular surface of the FIBULA; and the medial malleolar, lateral malleolar, and superior surfaces of the TALUS.Pronation: Applies to movements of the forearm in turning the palm backward or downward. When referring to the foot, a combination of eversion and abduction movements in the tarsal and metatarsal joints (turning the foot up and in toward the midline of the body).Fractures, Malunited: Union of the fragments of a fractured bone in a faulty or abnormal position. If two bones parallel to one another unite by osseous tissue, the result is a crossunion. (From Manual of Orthopaedic Terminology, 4th ed)Tuberculosis, Spinal: Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs.Hallux: The innermost digit of the foot in PRIMATES.Orthopedic Fixation Devices: Devices which are used in the treatment of orthopedic injuries and diseases.Arthrodesis: The surgical fixation of a joint by a procedure designed to accomplish fusion of the joint surfaces by promoting the proliferation of bone cells. (Dorland, 28th ed)
Foot deformityEctrodactylyPes cavusDorsalis pedis artery: In human anatomy, the dorsalis pedis artery (dorsal artery of foot), is a blood vessel of the lower limb that carries oxygenated blood to the dorsal surface of the foot. It arises at the anterior aspect of the ankle joint and is a continuation of the anterior tibial artery.Flatfoot (play): Flatfoot is a 2003 comedic play by David Williamson about the Roman playwright Plautus. It is one of Williamson's few plays not to be set in contemporary Australia and was written as a vehicle for actor Drew Forsythe.Plantigrade: [skeleton, showing plantigrade habit]Osteoporosis circumscripta: Osteoporosis Circumscripta Cranii refers to a highly circumscribed (focal) lytic lesion of the skull bone as seen on X-ray in patients with Paget's disease of bones. This focal lesion can be fairly large.Neuropathic arthropathyAccessory navicular bone: An accessory navicular bone is an accessory bone of the foot that occasionally develops abnormally in front of the ankle towards the inside of the foot. This bone may be present in approximately 2-14% of the general population and is usually asymptomatic.Pigeon toeDiabetic foot ulcer: Diabetic foot ulcer is a major complication of diabetes mellitus, and probably the major component of the diabetic foot.SmartToe: Smart Toe is a memory implant used in arthroplasty procedures to correct hammer toe, claw toe and mallet toe deformities. Available in the U.Ilizarov apparatusHubscher's maneuver: The Hubscher maneuver (or sometimes incorrectly referred to as "Jack's Test") refers to a method of evaluating the flexibility of a pes planus or flat foot type. The test is performed with the patient weight bearing, with the foot flat on the ground, while the [clinician] dorsiflexes the [hallux] and watches for an increasing convexity [of the Arches of the foot].Thomas test: The Thomas test (Hugh Owen Thomas well leg raising test) is a physical examination test, named after Dr. Hugh Owen Thomas (1834-1891), a British orthopaedic surgeon, used to rule out hip flexion contracture and psoas syndrome.Aarskog–Scott syndromeMedial ligament of talocrural joint: The medial ligament of talocrural joint (or deltoid ligament) is a strong, flat, triangular band, attached, above, to the apex and anterior and posterior borders of the medial malleolus.Brachymetatarsia: Brachymetatarsia or hypoplastic metatarsal is a condition in which there is one or more abnormally short metatarsals. This condition may result due to a congenital defect or it may be an acquired condition.Pes anserinus (leg): Pes anserinus ("goose foot") refers to the conjoined tendons of three muscles that insert onto the anteromedial (front and inside) surface of the proximal extremity of the tibia. The muscles are the sartorius, gracilis and semitendinosus.Calcaneal fractureOsteotomyHand deformityTibialis posterior muscle: The tibialis posterior is the most central of all the leg muscles, and is located in the deep posterior compartment of the leg.Orthotics: Orthotics (Greek: Ορθός, ortho, "to straighten" or "align") is a specialty within the medical field concerned with the design, manufacture and application of orthoses. An orthosis (plural: orthoses) is "an externally applied device used to modify the structural and functional characteristics of the neuromuscular and skeletal system".Diabetic neuropathyNasal septal hematoma: Nasal septal hematoma is a condition affecting the nasal septum. It can be associated with trauma.Charcot–Marie–Tooth disease: Charcot disease}}Dag Vidar Kristoffersen: Dag Vidar Kristoffersen (born 1957 in Drammen) is a Norwegian football coach, best known for his time in Strømsgodset where he led the team to two silver medals in the Norwegian Football Cup and bronze medals in the Tippeligaen. Kristoffersen is a former football and bandy player, having represented Drafn in both sports.Camptocormia: CamptocormiaScoliosis Research SocietyAdolph Albrecht Erlenmeyer: Adolph Albrecht Erlenmeyer (11 July 1822 – 9 August 1877) was a German physician and psychiatrist born in Wiesbaden.Hallux varusCongenital limb deformities: Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs.HypochondrogenesisClay-shoveler fracture: Clay-shoveler's fracture is a stable fracture through the spinous process of a vertebra occurring at any of the lower cervical or upper thoracic vertebrae, classically at C6 or C7. In Australia in the 1930s, men digging deep ditches tossed clay 10 to 15 feet above their heads using long handled shovels.Diabetic shoe: Diabetic shoes, sometimes referred to as extra depth, therapeutic shoes or Sugar Shoes, are specially designed shoes, or shoe inserts, intended to reduce the risk of skin breakdown in diabetics with co-existing foot disease.Thomas-Everard family: The Thomas-Everard family are a family of British farmers who became known to the public during the 2001 foot and mouth crisis. The son Guy Thomas-Everard made an impassioned plea for against his healthy farm animals being killed as part of a pre-emptive cull designed by the Ministry for Agriculture, Fisheries and Food (MAFF) to save Exmoor animals from foot and mouth disease.Ted Lapidus: Edmond "Ted" Lapidus (23 June 1929 – 29 December 2008) was a French fashion designer. He was born in Paris the son of a Russian-Jewish émigré tailor.Hip spica cast: A hip spica cast is a sort of orthopedic cast used to immobilize the hip or thigh. It is used to facilitate healing of injured hip joints or of fractured femurs.Congenital contractural arachnodactyly: Beals syndrome (congenital contractural arachnodactyly, Beals-Hecht syndrome) is a rare congenital connective tissue disorder. Beals syndrome has only recently been described as a syndrome distinct from Marfan's syndrome.Costovertebral angleHaller ParkMusculoskeletal abnormalityValgus deformitySplints: Splints is an ailment of the horse or pony, characterized by a hard, bony swelling, usually on the inside of a front leg, lying between the splint and cannon bone or on the splint bone itself. It may be "hot," meaning that it occurred recently and is still painful; or "cold," meaning that the splint has completely recovered and there is no longer any swelling or pain associated with it.Footballer's ankle: Footballer's Ankle is a pinching or impingement of the ligaments or tendons of the ankle between the bones, particularly the talus and tibia. This results in pain, inflammation and swelling.Pronator drift: In medicine, pronator drift (also known as pyramidal drift) refers to a pathologic sign seen during a neurological examination. Jean Alexandre Barré is credited with having first described it thus it is sometimes known as the Barré test or sign.Cornell's sign: Cornell's sign is a clinical sign in which scratching along the inner side of the extensor hallucis longus tendon elicits an extensor plantar reflex. It is found in patients with pyramidal tract lesions, and is one of a number of Babinski-like responses.Harrington Meeting HouseTriple arthrodesis
(1/191) Congenital convex pes valgus.
Congenital convex pes valgus (congenital vertical talus) is a rare condition. We reviewed ten feet in seven patients who had had surgical correction. All had been operated on by the senior author (JF) and the same surgical technique was used throughout, incorporating transfer of the tibialis anterior to the neck of the talus. The mean age at surgery was 31 months and the mean follow-up was nine years (6 to 14). All patients completed a questionnaire and had clinical, radiological and photographic evaluation performed by an independent examiner. None had required further surgery. All but one were satisfied with the result, and had no functional limitations. They all wore normal shoes. The mean ankle dorsiflexion was 17 degrees and plantar flexion 21 degrees. The mean arc of subtalar motion was 27 degrees. All radiological parameters measured were within the normal range, although irregularity of the talonavicular joint was common. No avascular necrosis of the body of the talus was seen. We conclude that the medium-term results of this procedure are very satisfactory. (+info)
(2/191) Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.
Split-hand/split-foot malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human limb malformation characterized by aberrant development of central digital rays with absence of fingers and toes, a deep median cleft, and fusion of remaining digits. SHFM is clinically heterogeneous, presenting both in an isolated form and in combination with additional abnormalities affecting the tibia and/or other organ systems, including the genitourinary, craniofacial, and ectodermal structures. Three SHFM disease loci have been genetically mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q24 (SHFM3). We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240. In several instances we found evidence for a more severe phenotype in offspring of a mildly affected parent, suggesting anticipation. Finally, data from this family, combined with those from six other pedigrees, mapped to 10q24, demonstrate biased transmission of SHFM3 alleles from affected fathers to offspring. The degree of this segregation distortion is obvious in male offspring and is possibly of the same magnitude for female offspring. (+info)
(3/191) Musculoskeletal conditions in children attending two Togolese hospitals.
OBJECTIVE: A retrospective study was conducted in order to point out the different kinds of musculoskeletal conditions observed in children attending two Togolese hospitals. RESULTS: A total of 434 (242 females, 192 males) of the 29 620 children examined (1.5%) were suffering from these conditions. Probable joint and bone infections (187 patients, 43%), limb deformities (106 patients, 24%), osteochondrosis (60 patients, 14%) and vaso-occlusive crisis due to haemoglobinopathies (29 patients, 7%) were the main conditions observed. Osteomyelitis observed in 128 patients affected the humerus (25 patients), radius (10 patients), femur (68 patients), tibia (15 patients), fibula (five patients), and both tibia and fibula (five patients). Probably, infectious arthritis seen in 30 patients affected mainly the hip (11 patients) and the knee (13 patients). In the spine, infection affected the midthoracic and upper lumbar areas. Underdevelopment, sickle cell anaemia and sickle cell haemoglobin C disease were the main risk factors in determining susceptibility to infections. Vaso-occlusive crises were due to sickle cell anaemia (11 patients) and sickle cell haemoglobin C disease (18 patients). Osteochondrosis seen in 60 patients free from haemoglobinopathy involved the spine (Scheuermann's disease, 38 patients) and the hip (Legg-Calve-Perthes disease, 22 patients). Limb deformities were observed in the knee (varus and valgus deformities in 64 patients) and the foot (talipes varus equin in 40 patients). CONCLUSION: This study's findings, which require further confirmation, suggest some conclusions. Scheuermann's disease can explain in part the degenerative disc conditions observed in African adults. Valgus and varus deformities play an important role in the development of knee osteoarthritis in Black Africa. An African child with joint or bone pain should be investigated for sickle cell anaemia. In the future, improved lifestyle and better health care will be essential to reduce bone and joint infections, and allow refined diagnosis of connective tissue diseases now probably underestimated in African children. (+info)
(4/191) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like disorder, limb mammary syndrome (LMS). Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families. Eight mutations result in amino acid substitutions that are predicted to abolish the DNA binding capacity of p63. The ninth is a frameshift mutation that affects the p63alpha, but not p63beta and p63gamma isotypes. Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome. (+info)
(5/191) Club foot, an adverse outcome of early amniocentesis: disruption or deformation? CEMAT. Canadian Early and Mid-Trimester Amniocentesis Trial.
An association between the occurrence of club foot and early amniocentesis has been reported. The largest of these randomised studies was the Canadian Early and Mid-Trimester Amniocentesis Trial. Data describing the neonatal outcome, focusing on this association, are presented. Possible mechanisms for the association and the implications for the development of club foot are discussed. (+info)
(6/191) Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected family, making HFGS the second human syndrome shown to be caused by a HOX gene mutation. We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. In families 1, 2, and 3, nonsense mutations truncating the encoded protein N-terminal to or within the homeodomain produce typical limb and genitourinary abnormalities; in family 4, an expansion of an N-terminal polyalanine tract produces a similar phenotype; in family 5, a missense mutation, which alters an invariant domain, produces an exceptionally severe limb phenotype; and in family 6, in which limb abnormalities were atypical, no HOXA13 mutation could be detected. Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism. (+info)
(7/191) Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals, is phenotypically analogous to the naturally occurring murine Dactylaplasia mutant (Dac). Results of recent studies have shown that, in heterozygous Dac embryos, the central segment of the apical ectodermal ridge (AER) degenerates, leaving the anterior and posterior segments intact; this finding suggests that localized failure of ridge maintenance activity is the fundamental developmental defect in Dac and, by inference, in SHFM. Results of gene-targeting studies have demonstrated that p63, a homologue of the cell-cycle regulator TP53, plays a critically important role in regulation of the formation and differentiation of the AER. Two missense mutations, 724A-->G, which predicts amino acid substitution K194E, and 982T-->C, which predicts amino acid substitution R280C, were identified in exons 5 and 7, respectively, of the p63 gene in two families with SHFM. Two additional mutations (279R-->H and 304R-->Q) were identified in families with EEC (ectrodactyly, ectodermal dysplasia, and facial cleft) syndrome. All four mutations are found in exons that fall within the DNA-binding domain of p63. The two amino acids mutated in the families with SHFM appear to be primarily involved in maintenance of the overall structure of the domain, in contrast to the p63 mutations responsible for EEC syndrome, which reside in amino acid residues that directly interact with the DNA. (+info)
(8/191) Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot.
We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes. (+info)