Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.

TitleThirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.
Publication TypeJournal Article
Year of Publication1998
AuthorsWilson GN
JournalAmerican journal of medical genetics
Volume79
Issue2
Pagination112-20
Date Published1998 Sep 1
Abstract

Eight new and five previously illustrated patients with Niikawa-Kuroki syndrome (NKS) are compared to those in the literature, providing data on 183 cases. Eight patients had disproportionate microcephalyi and in one autopsied patient there was frontal lobe atrophyi, focal polymicrogyriai, and a hypoplastic fourth ventriclei. The metacarpophalangeali pattern profiles of three Caucasian patients with NKS were similar to that of a prior case report, but those of two Hispanic patients were more variable. NKS was eliminated by follow-up in nine suspect cases, highlighting the diagnostic value of findings such as arched eyebrows, long palpebral fissuresi, flat nasali tip, and prominent finger pads. One patient suspected of having NKS had a very different metacarpophalangeal pattern profile, supporting its diagnostic utility in selected cases. Higher frequencies of neonatal complications, abnormal dentition, hypotonia, and microcephaly were noted in non-Asian patients with NKS, while a higher frequency of skeletal anomalies was seen in Japanese patients. Complications affecting cognitive, visual, hearing, cardiac, renali, skeletal, immune, and endocrinologic functions are translated into a program for preventive management. X chromosomei anomalies are the most compelling of diverse genetic changes seen in NKS, and this report adds another case to several possible instances of vertical transmission. The 108 non-Asian patients now reported emphasize the worldwide significance of NKS recognition.

Alternate JournalAm. J. Med. Genet.
Citation Key9741469