An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Autor:	Sara Naldini, Matteo Della Monica, Francesca Peluso, Giulia Trippella, Paolo Lionetti, Stefano Stagi
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	0301 basic medicine Heterozygote Prominent forehead Langer-Giedion Syndrome Physical examination Case Report 030105 genetics & heredity Nose Short stature Fingers 03 medical and health sciences Bulbous nasal tip Growth retardation Short fingers Sparse hair Trichorhinophalangeal syndrome TRPS DNA-Binding Proteins Early Diagnosis Female Hair Diseases Humans Infant Mutation Transcription Factors medicine Family history Craniofacial medicine.diagnostic_test business.industry lcsh:RJ1-570 lcsh:Pediatrics Anatomy Repressor Proteins Short finger 030104 developmental biology medicine.symptom business
Zdroj:	Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018) Italian Journal of Pediatrics
ISSN:	1824-7288
Popis:	Background 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. Case presentation 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. Conclusions 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.
Databáze:	OpenAIRE
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