Brachytelephalangic chondrodysplasia punctata in a female child

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.