title: Familial syndrome resembling Aarskog syndrome.
abstract: Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the FGD1 gene, but there is evidence that an autosomal dominant or recessive form also exists. We report on a Chinese family in whom several members have manifestations of AAS, but differ in limb anomalies and show additional characteristics. FGD1 sequencing and linkage analysis excluded FGD1 as the cause in this family. A common known submicroscopic chromosome imbalance is less likely. Both autosomal dominant and recessive patterns of inheritance remain possible.
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
authors.forename: Mingzhi
authors.initials: M
authors.lastname: Xu
authors.forename: Ming
authors.initials: M
authors.lastname: Qi
authors.forename: Huali
authors.initials: H
authors.lastname: Zhou
authors.forename: Jing
authors.initials: J
authors.lastname: Yong
authors.forename: Huiqing
authors.initials: H
authors.lastname: Qiu
authors.forename: Peikuan
authors.initials: P
authors.lastname: Cong
authors.forename: Xutao
authors.initials: X
authors.lastname: Hong
authors.forename: Chengjiang
authors.initials: C
authors.lastname: Li
authors.forename: Yan
authors.initials: Y
authors.lastname: Jiang
authors.forename: Xiao
authors.initials: X
authors.lastname: Chen
authors.forename: Yunsong
authors.initials: Y
authors.lastname: Yu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors