Department of Mother and Child's Health, Meyer University Children's Hospital, University of Florence, Viale Pieraccini 34, 50100, Florence, Italy.
Division of Pediatric Gastroenterology and Nutrition, Meyer University Children's Hospital, University of Florence, Florence, Italy.
Ital J Pediatr. 2018 Nov 20;44(1):138. doi: 10.1186/s13052-018-0580-z.
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity.
We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Postnatal growth was always below - 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet. Patient's mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. Molecular analysis of TRPS1 gene showed a heterozygous c.2086C > T;(p.Arg696Ter) mutation both in the patient and her mother, confirming the diagnosis of TRPS, type I.
Clinical phenotype of TRPS can be subtle and the syndrome often remains undiagnosed. A comprehensive clinical examination and an exhaustive family history are crucial to reach the correct diagnosis, which is essential to perform adequate follow-up and timely therapeutic procedures.
颅面指（趾）骨发育不良综合征（TRPS）是一种罕见的常染色体显性遗传病，由 TRPS1 基因突变引起。其临床表现具有特征性的颅面、外胚层和骨骼异常，如稀疏的毛发、球状鼻尖和短而畸形的手指，具有极高的变异性。
我们报告了一例 17 个月大的女孩，其存在生长迟缓及发育异常的特征。该患儿的出生后生长一直低于体重和身高的 -2 标准差，体格检查显示相对的大头畸形，稀疏的毛发，球状鼻尖，薄而上翘的嘴唇，外耳突出，额骨突出，下颌小，手脚短小。患儿的母亲具有相同的面部特征，表现为稀疏的毛发和手脚小。其外祖父和两位叔叔身材矮小，有球状鼻尖，稀疏的毛发，早发性秃发。TRPS1 基因突变分析显示患者及其母亲均存在杂合 c.2086C>T；(p.Arg696Ter)突变，确诊为 I 型 TRPS。
TRPS 的临床表型可能不明显，该综合征常被漏诊。全面的临床检查和详尽的家族史对于明确诊断至关重要，这对于进行充分的随访和及时的治疗措施至关重要。
