Pycnodysostosis: Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.Dysostoses: Defective bone formation involving individual bones, singly or in combination.Cathepsin K: A cysteine protease that is highly expressed in OSTEOCLASTS and plays an essential role in BONE RESORPTION as a potent EXTRACELLULAR MATRIX-degrading enzyme.Bone Diseases, DevelopmentalAnemia, Myelophthisic: Anemia characterized by appearance of immature myeloid and nucleated erythrocytes in the peripheral blood, resulting from infiltration of the bone marrow by foreign or abnormal tissue.Maxillofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.Cranial Fontanelles: Any of six membrane-covered openings between the CRANIAL SUTURES in the incompletely ossified skull of the fetus or newborn infant. The fontanelles normally close sometime after birth.Cathepsins: A group of lysosomal proteinases or endopeptidases found in aqueous extracts of a variety of animal tissues. They function optimally within an acidic pH range. The cathepsins occur as a variety of enzyme subtypes including SERINE PROTEASES; ASPARTIC PROTEINASES; and CYSTEINE PROTEASES.Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Consanguinity: The magnitude of INBREEDING in humans.
Acrofrontofacionasal dysostosis: Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure.OdanacatibHypochondrogenesisDacrocyte: A dacrocyte (or dacryocyte) is a type of poikilocyte that is shaped like a teardrop (a "teardrop cell"). A marked increase of dacrocytes is known as "dacrocytosis".Kocher–Debre–Semelaigne syndrome: The Kocher–Debré–Semelaigne syndrome is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism. The absence of painful spasms and pseudomyotonia differentiates this syndrome from Hoffmann syndrome.Fontanelle: A fontanelle (or fontanel) (colloquially, soft spot) is an anatomical feature of the infant human skull comprising any of the soft membranous gaps (sutures) between the cranial bones that make up the calvaria of a fetus or an infant. Fontanelles allow for rapid stretching and deformation of the neurocranium as the brain expands faster than the surrounding bone can grow.Cathepsin: Cathepsins (Ancient Greek kata- "down" and hepsein "boil"; abbreviated CTS) are proteases (enzymes that degrade proteins) found in all animals as well as other organisms. There are approximately a dozen members of this family, which are distinguished by their structure, catalytic mechanism, and which proteins they cleave.Dwarfism: Dwarf}}Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.
(1/3) Pyknodysostosis: oral findings and differential diagnosis.
Pyknodysostosis is a rare, genetic, autosomal recessive condition characterized by short stature, generalized bone sclerosis, and oral manifestations such as maxillary atresia and an increase of the mandibular angle. The main purpose of this article was to report a case of pyknodysostosis, describing the characteristic orofacial findings of the disease and discussing the differential diagnosis. (+info)
(2/3) Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
(3/3) Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence.