Syndromic Disorders with Short Stature

Abstract

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively.

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

“…Growth is a complex process influenced by genetic, hormonal, nutritional, environmental factors, or chronic systemic diseases, both preand postnatally (7). Various genetic syndromes, including Turner syndrome, Prader-Willi syndrome or Noonan syndrome, often present with growth defects and short stature (8). Thus, a genetic test may be an appropriate way (9) for differential diagnoses of those children with a pathological growth impairment.…”

De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

“…The proband also shows duplication at 3p25.2, which contains RAF1 gene. Gain-of-function point mutations of RAF1 can be seen in individuals with Noonan syndrome (NS), which is characterized by short stature, craniofacial dysmorphisms, and a high frequency of cardiac anomalies, including pulmonary valve stenosis, hypertrophic cardiomyopathy, atrial or ventricular septal defects 36,37 (►Table 1). An individual with subtle craniofacial abnormalities and heart defects was reported to have a duplication of 3p25.1.…”

“…An individual with subtle craniofacial abnormalities and heart defects was reported to have a duplication of 3p25.1. 37 Luo et al suggests that microduplication encompassing RAF1 can be causative of NS. 38 NS and trisomy 9p share various similar features (►Table 1); in few cases, cardiac defects in trisomy 9p are seen when the duplication involves the long arm of chromosome 9, 9q11-13.…”

Sedation in a Patient with Prader-Willi Syndrome: A Case Report

“…Santral hipotoni, gelişme geriliği, bitemporal mesafenin darlığı, gözlerin badem şekilli, üst dudakların ince, ağız köşeleri aşağı dönük, deformatif diş yapısı, mikrognati ve kısıtlı boyun hareketliliği ile karakterize yüz görünümü, hipogonadizim, hiperfaji ve bunun sonucunda oluşan morbid obezite kliniği ile karekterizedir (2). Morbidite ve mortalitenin en önemli nedeni obezite ve ilgili komplikasyonlardır.…”