Abstract
SHORT Syndrome is a rare genetic condition with less than 50 cases reported worldwide. Its name is an acronym, represented by Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly and Teething delay. Other associated features include intrauterine growth restriction, lipodystrophy, delayed bone age and progeroid appearance. Cognitive function is usually preserved. Our patient was a 7-year-old-boy, referred at 9 months old forsex chromosome mosaicism detected on his karyotype analysis. He was born term via normal vaginal delivery with a birth weight of 2.05 kg and good Apgar score. Antenatally, mother was diagnosed with diabetes mellitus not requiring insulin. From 7 months gestation, serial scans showed symmetrical intrauterine growth restriction (IUGR). Examination at birth revealed a baby small for age, with prominent ears and micrognathia. During his subsequent clinic visits, he manifested Russell-Silver-like phenotype; failure to thrive, broad forehead and triangular facies, although additional features of wrinkled skin over his hands and feet, deep set eyes, groove over his chin and large ears were also seen. Genetic studies for Russell-Silver Syndrome (RSS) and chromosomal microarray testing which was done subsequently, were both normal. His genetic condition remained elusive for many years. A clinical diagnosis of SHORT Syndrome was finally considered. Polymerase Chain Reaction (PCR) and direct sequencing method was used to analyse the targeted gene at Institute for Medical Research (IMR), Kuala Lumpur. A heterozygous mutation was detected at c.1945C>T in exon 15 of PIK3R1 gene; which impairs cellular growth and proliferation. This case report discusses the differential diagnosis of a dysmorphic child with short stature with RSS -like phenotype.
Highlights
SHORT Syndrome was first introduced by Gorlin et al in 1975 and since very few cases have been reported worldwide [1]
Single gene sequencing of PIK3R1 gene was performed at Institute for Medical Research (IMR) confirmed his diagnosis of SHORT Syndrome
SHORT syndrome is a rare genetic condition worldwide [1,2]. It was first described by RJ Gorlin et al in 1975 [10] based on the striking physical features of two brothers born to normal parents
Summary
SHORT Syndrome was first introduced by Gorlin et al in 1975 and since very few cases have been reported worldwide [1]. Single gene sequencing of PIK3R1 gene was performed at IMR confirmed his diagnosis of SHORT Syndrome During his subsequent clinic reviews, his growth parameters started falling off centiles and his dysmorphic features became more distinct and of which not typically seen in Mosaic Intersex Syndrome [7,8]. He had sparse hair, prominent, broad forehead, triangular facies, deep set eyes, large ears and a groove was noted at his chin. Malaysian Journal of Paediatrics and Child Health (MJPCH) | (Early online – December 2021) | Page 26 of 27
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