13 CASES OF NIIKAWA-KUROKI-SYNDROME - REPORT AND REVIEW WITH EMPHASISON MEDICAL COMPLICATIONS AND PREVENTIVE MANAGEMENT

Eight new and five previously illustrated patients with Niikawa-Kuroki syndrome (NKS) are compared to those in the Literature, providing dat a on 183 cases. Eight patients had disproportionate microcephaly and i n one autopsied patient there was frontal lobe atrophy, focal polymicr ogyria, and a hypoplastic fourth ventricle. The metacarpophalangeal pa ttern profiles of three Caucasian patients with NKS were similar to th at of a prior case report, but those of two Hispanic patients were mor e variable. NKS was eliminated by follow-up in nine suspect cases, hig hlighting the diagnostic value of findings such as arched eyebrows, lo ng palpebral fissures, flat nasal tip, and prominent finger pads. One patient suspected of having NKS had a very different metacarpophalange al pattern profile, supporting its diagnostic utility in selected case s. Higher frequencies of neonatal complications, abnormal dentition, h ypotonia, and microcephaly were noted in non-Asian patients with NKS, while a higher frequency of skeletal anomalies was seen in Japanese pa tients. Complications affecting cognitive, visual, hearing, cardiac, r enal, skeletal, immune, and endocrinologic functions are translated in to a program for preventive management. X chromosome anomalies are the most compelling of diverse genetic changes seen in NKS, and this repo rt adds another case to several possible instances of vertical transmi ssion. The 108 non-Asian patients now reported emphasize the worldwide significance of NKS recognition. Am. J. Med. Genet. 79:112-120, 1998. (C) 1998 Wiley-Liss, Inc.