Tsai Anne Chun-Hui, Robertson Jacqualyn R, Teebi Ahmad S
University of Colorado Health Science Center, Denver, CO 80218, USA.
Am J Med Genet. 2002 Dec 1;113(3):302-6. doi: 10.1002/ajmg.10870.
We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.
我们报告了一个患有蒂比眼距过宽综合征的家庭，成员包括一位母亲、一个女儿和一个儿子，其中有一些此前未被认识到的表现。临床发现包括前额突出、眉弓高耸、明显的眼距过宽、人中长、轻度指蹼、第五指弯曲、脐部异常和肌张力减退。母亲和女儿还患有需要手术矫正的上睑下垂。女儿患有双侧虹膜脉络膜视网膜缺损、高度远视和一个小脐疝。儿子的面部特征不那么明显，但出生时患有一个小脐膨出、大型继发孔房间隔缺损、动脉导管未闭、双侧隐睾、右侧肾积水和一个左侧肾囊肿。母亲小时候患有需要手术矫正的脐疝并有心脏杂音病史。两个孩子听力正常，有轻度发育迟缓。他们的高分辨率核型正常，女儿的22q11微缺失荧光原位杂交检测为阴性。我们得出结论，蒂比眼距过宽综合征中的心脏缺陷并非罕见发现，而且眼缺损和肾脏异常此前未被认识到。
