DEL(14)(Q22.1Q23.2) IN A PATIENT WITH ANOPHTHALMIA AND PITUITARY HYPOPLASIA

Only few cases with an interstitial deletion of chromosome 14 have bee n described so far. We report on a 21-month-old girl with an interstit ial deletion of the long arm of chromosome 14, del(14) (q22.1q23.2). S he presented with bilateral anophthalmia, absent left external auditor y canal, facial asymmetry, microretrognathia, hypotonia, and psychomot or retardation. Skeletal X-rays showed lambdoid craniosynostosis, a ve ry small sella turcica and cervical vertebral anomalies. Brain MRI sho wed the absence of the optic chiasm, an hypoplastic pituitary gland, a nd cortical atrophy. No cardiac or abdominal malformations were found. Two other patients with a similar deletion, (del(14)(q22.1q23) and de l(14)(q22.1q22.3)), are described. Both presented with bilateral anoph thalmia and absent pituitary or hypogonadism. These three cases sugges t that the region 14q22 is important for eye and pituitary development . Interestingly, the human BMP-4 gene, a member of the TGF-beta superf amily, maps to 14q22-q23 and may play a role in pituitary and eye deve lopment. (C) 1998 Wiley-Liss, Inc.