期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 116A, 期 2, 页码 179-182出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.10763
关键词
Fryns syndrome; diaphragmatic defect; gastroschisis; midline facial cleft; double proboscis; arrhinencephaly; choanal atresia; autosomal recessive
We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin; translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip,alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome. (C) 2002 Wiley-Liss, Inc.
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