![]() ![]() Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Rhizomelic short stature with microcephaly, micrognathia, and developmental delay (SRMMD) Odontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms We have also included genes for some syndromes/disorders where osteopenia/fractures is one of the findings for differential diagnostic purposes for cases with limited clinical information, such as newborns. We have included genes for hypophosphatasia on this panel for differential diagnostic purposes. ![]() The differential diagnosis includes child abuse, rickets, osteomalacia, and other rare skeletal syndromes. Other extraskeletal manifestations may include hearing loss, dentinogenesis imperfecta, blue/gray sclerae, hypercalciuria, easy bruisability, increased laxity of the ligaments and skin and cardiovascular abnormalities. Skeletal deformity, short stature, scoliosis and wormian bones may be present. The major clinical manifestation is skeletal fragility. Disease prevalence is approximately 6-7:100,000. Gonadal mosaicism may be present in 3%-5% of cases. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. The primary differential diagnosis for individuals with features of COL1A1/2-related OI are autosomal recessive subtypes of OI. Several additional genes have recently been identified. COL1A1/2-related OI is inherited in an autosomal dominant manner. About 90% of patients have mutations in type I collagen genes ( COL1A1 and COL1A2). The two mildest forms, classic non-deforming OI and common variable OI, account for considerably more than half of all OI. Osteogenesis imperfecta (OI) phenotype is variable, ranging from osteoporosis presenting in adulthood to lethality in infancy. ![]()
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