Singh Ankur, Tekin Mustafa, Falcone Michelle, Kapoor Seema
Department of Pediatrics, Division of Genetics, MAMC and Associated Lok Nayak Hospital, New Delhi, India; and *John P Hussman Institute for Human Genetics, University of Miami, Miller Scool of Medicine, Miami, FL, USA. Correspondence to: Dr Seema Kapoor, M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.
Indian Pediatr. 2014 Nov;51(11):919-20. doi: 10.1007/s13312-014-0529-2.
Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate.
13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year.
Homozygous novel missense mutation in fibroblast growth factor 3.
LAMM syndrome and hypophosphatemic rickets may be associated.
迷路发育不全、小耳畸形和小牙畸形（LAMM）综合征的特征是内耳结构完全缺失（米歇尔发育不全）、小耳畸形和小牙畸形。低磷性佝偻病是由肾小管对滤过磷酸盐的重吸收缺陷引起的。
一名13岁印度女孩自婴儿期起出现耳聋，近一年来出现进行性腕部增宽和膝外翻。
成纤维细胞生长因子3存在纯合新型错义突变。
LAMM综合征和低磷性佝偻病可能相关。
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