منابع مشابه
Campomelic dysplasia: evidence of autosomal dominant inheritance.
We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.
متن کاملMild Campomelic Dysplasia: Report on a Case and Review.
We report on a 10.5-year-old girl with a mild form of campomelic dysplasia. She presented with short stature of prenatal onset, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of...
متن کاملA Case of Campomelic Dysplasia without Sex Reversal
Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flatte...
متن کاملTranslocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9. Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malform...
متن کاملSurviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome.
The radiological findings in five patients with features of the ischio-pubic-patella syndrome are presented. All of these patients have genetic/cytogenetic evidence of campomelic dysplasia. The ischio-pubic-patella syndrome appears to be a distinct entity from the small patella syndrome as first described by Scott and Taor. The findings in the five presented cases with radiological evidence of ...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2011
ISSN: 0971-6866
DOI: 10.4103/0971-6866.92085