Peter M O, Jeandidier E, Maroteaux P
Service de Pédiatrie, Centre Hospitalier de Mulhouse, France.
J Pediatr Orthop B. 1997 Jan;6(1):24-6. doi: 10.1097/01202412-199701000-00006.
We report a case of a female child born to nonconsanguineous parents who at birth presents a facial dysmorphism including flattened and hypoplasic nose associated with epiphyseal stippling of the tarsal bones, the right hip, the cervical, lumbar, and sacral regions of the spinal column, and hypoplasia of the distal phalanges of the fingers. The current pregnancy history was negative for exposure to alcohol or drugs. The karyotype was normal. The clinical and radiological features strongly suggest brachytelephalangic chondrodysplasia punctata. Described in males, this condition has not previously been detected in a female; its gene has been assigned to Xp22.3. The present observation of brachytelephalangic chondrodysplasia punctata in a female questions the genetic heterogeneity of this syndrome.
我们报告一例非近亲结婚父母所生的女童，出生时即呈现面部畸形，包括扁平且发育不全的鼻子，伴有跗骨、右髋、脊柱颈段、腰段和骶段的骨骺点状钙化，以及手指远端指骨发育不全。目前的妊娠史显示无酒精或药物暴露。核型正常。临床和放射学特征强烈提示短指骨点状软骨发育不良。该病症在男性中有描述，但此前未在女性中检测到；其基因已定位到Xp22.3。此次在女性中观察到短指骨点状软骨发育不良，对该综合征的遗传异质性提出了质疑。
