Cartilage Hair Hypoplasia: First report from Iran
An eight-year-old boy was visited in endocrinology clinic of the Kashan University of Medical Sciences. He was 15.5 kg in weight (3.5 standard deviation below mean) and his height was 92 cm (7 standard deviation below mean). Based on the available documents, he weighed 3.65 kg (50th centile) at birth, with a crown to heel length of 47 cm (10th centile). He had shown abdominal distention and vomiting in his neonatal period and eventually diagnosed asHirschsprung disease that was confirmed using biopsy.\nIn physical examination he had severe short stature, disproportionate short-limbed dwarfism, short and puffy hands, and genu varum deformity. The sternum was abnormally prominent. Hyperextensibility of the joints was not detected.\nHis scalp hairs, eyebrows, and eyelashes were fair, very fine and sparse (). While no nail dysplasia or dental abnormality was found, intellectual development was normal for his age and no clinical evidence of immunodeficiency was observed. However he developed hypothyroidism in the age of 6 years. A 3-mm kidney stone was detected when he was 3 years old that enlarged to 8mm in size at the age of 8 and treated by lithotripsy.\nSkeletal X-rays revealed typical metaphyseal dysostosis, including widening, cupping, and defective mineralization in the metaphysis of the tubular bones (). Vesicouretral reflux was detected in his voiding vesicocyctogram. Complete blood count, electrolytes, and renal function tests were normal. Sterile pyuria was found in several samples of urinalysis that may be as a result of the vesicouretral reflux or renal stone. Microscopic stool examination detected no fat globules. The patient had been assessed for celiac disease and cystic fibrosis during his infancy that was negative.