The Golabi-Rosen syndrome--report of a second family.
The Golabi-Rosen syndrome--report of a second family.
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戈拉比-罗森综合症——第二个家庭的报告。
DOI：
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发表时间：
1984
期刊：
影响因子：
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通讯作者：
J. M. Opitz
中科院分区：
文献类型：
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作者：
J. M. Opitz
Golabi和罗森（1984）报道了一种新的X连锁智力低下/多先天性异常（XLMR/MCA）产前和产后过度生长综合征，具有巨口的特征性“粗糙”面部外观，舌中线沟，下牙槽嵴和唇，腭粘膜下裂，多生乳头，肠道异常，多生一对肋骨，骶骨和尾骨异常，食指发育不良，轴后多指畸形和其他指畸形。这是一种不完全隐性性状，在专性携带者中有一些明显的表现。在这里，我们报告的第二个家庭（研究在威斯康星州超过9年），其中3名男性出生的同父异母的姐妹和他们的母亲与Golabi-Rosen综合征（GRS）的影响。在这些受影响的雄性动物中，过度生长不是一个突出的表现。囊性肾、特殊皮肤改变和肝肿大的存在使得Golabi-Rosen综合征可能是X连锁MCA/发育不良/MR综合征。其代谢基础仍然未知。这似乎是一种不完全的隐性特征。
Golabi and Rosen (1984) have reported on a new X-linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre- and postnatal overgrowth, characteristic "coarse" facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. This was an incompletely recessive trait with some manifestations evident in an obligatory carrier. Here we report on a second family (studied at the University of Wisconsin for over 9 years) in which 3 males born to half-sisters and their mother were affected with the Golabi-Rosen syndrome (GRS). Overgrowth was not a prominent manifestation in these affected males. Presence of cystic kidneys, peculiar skin changes and hepatomegaly make it likely that the Golabi-Rosen syndrome is an X-linked MCA/dysplasia/MR syndrome. Its metabolic basis remains unknown. It seems to be an incompletely recessive trait.