Osteochondrodysplasias with Normal Body Proportions
· Osteogenesis imperfect (type I, III and IV) - ± Multiple fractures with normal or nearly normal bone lengths.
· Cleidocranial dysotosis- Autosomal dominant; 30% occur by spontaneous mutation. Clavicular hypoplasia/aplasia, brachycephaly with increased BPD and frontal bossing.
· Ototpalatodigital syndrome- X-linked with minor manifest syndrome tation. Camptodactyly, hypoplasia of fibulas, phalanges, metacarpals/metatarsals, syndactyly, cleft palate.
· Larsen's syndrome- Hypoplasia of proximal radius. short thumb, talipes, hypertelorism, multiple dislocations kyphoscoliosis. HepatosplenomegalY. Requires radiological confirmation.
· Ectrodactyly- ectodermal dysplasia-cleft palate syndrome-Autosomal dominant; ectrodactyly (lobster claw deformity), cleft lip and palate. Additional findings include urinary tract involvement, conductive hearing loss and atresia of lacrimal duct.
· Caudal regression syndrome- Absence of sacrum associated with talipes, absent limb elements, flexion contractures sirenomelia, anorectal atresia, intestinal malrot ation, patent cloaca, TOF, gastro schisis, duodenal atresia, renal agenesis, multicystic dysplastic kidneys, duplication/absence of genitalia, CHD, Pulmonary hypoplasia, DWM and hydrocephalus There is a strong association with maternal insulin dependent diabetes.
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