Open AccessA CASE OF SILVER- RUSSEL SYNDROME PRESENTING WITH SHORT STATURE AND THE INFLUENCE OF GROWTH HORMONE ON GROWTH
Author(s) -
Arif Zaheer,
Faryad Hussain,
Rizwan Gohar,
Muzamal Hussain,
Muhammad Shahid,
Amir Rasheed
Publication year - 2021
Publication title -
pakistan postgraduate medical institute
Language(s) - English
Resource type - Journals
ISSN - 2710-1924
DOI - 10.51642/ppmj.v31i01.341
Subject(s) - clinodactyly , short stature , failure to thrive , macrocephaly , pediatrics , medicine , bone age , growth retardation , tall stature , anthropometry , growth hormone deficiency , turner syndrome , growth hormone , endocrinology , hormone , pregnancy , biology , anatomy , genetics
The Silver-Russell syndrome (SRS) is a rare heterogeneous genetic disorder whose pathogenesis remains controversial. The diagnosis is mainly based on the clinical association of characteristic signs, including intrauterine growth retardation, postnatal short stature, relative macrocephaly, triangular facies, clinodactyly of the fifth finger and asymmetry of the body. In this case report, we focused on a patient with SRS, who came to OPD clinic with failure to thrive and delayed speech. The child presented with evident poor height and weight gain, relative macrocephaly. The specific SRS features in this patient included flat feet and clinodactyly. In the subsequent follow-up, the patient revealed a few alterations in the craniofacial anomalies, but with heightened intellectual, psychological issues and failure to gain weight/height. The treatment with growth hormone resulted into considerable increase in height and weight emphasizing that growth hormone has some beneficial effect on the growth velocity. The pediatricians in the developing countries should know the clinical diagnostic score for SRS and other congenital malformations to diagnose SRS as they are deprived of access to molecular or genetic diagnostics.