Lapunzina P, Musante G, Pedraza A, Prudent L, Gadow E
ECLAMC, (Latin American Collaborative Study of Congenital Malformations), Clínica y Maternidad Suizo Argentina, Buenos Aires, Argentina.
Am J Med Genet. 2001 Aug 15;102(3):258-60. doi: 10.1002/ajmg.1467.
We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.
我们报告了一名患有全前脑畸形、颅缝早闭以及多种先天性异常的女婴，这些异常包括三叶草颅骨、丹迪-沃克畸形、双侧小眼畸形、软腭裂、先天性脊柱侧弯、指甲发育不全以及主动脉缩窄。其中一些特征与热那亚综合征（MIM 601370）的诊断相符，热那亚综合征是一种最近描述的罕见常染色体隐性疾病。然而，其他严重且先前未描述的畸形的发现，增加了一种新认识疾病的可能性。
