Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies

• Published in: American journal of medical genetics 2000-07, Vol.93 (1), p.47-51
• Main Authors: Dumić, Miroslav, Cvitanovic, Marijana, Ille, Jasenka, Potocki, Kristina
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; alopecia; Body Height; Bone and Bones - abnormalities; contractures; Ectodermal Dysplasia - pathology; Female; Genes, Recessive; Genetic Linkage; growth retardation; Humans; Intellectual Disability; Male; mental retardation; Microcephaly - pathology; spine abnormalities; X Chromosome
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/1096-8628(20000703)93:1<47::AID-AJMG8>3.0.CO;2-A

We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by Schinzel [1980: Helv Paediatr Acta 35:243–251] and van Gelderen [1982: Am J Med Genet 13:383–387]. The fact that boys are born to young and healthy nonconsanguineous parents and there are no other affected relatives suggests autosomal or X‐linked recessive inheritance or parental germinal mosaicism for a dominant mutation. Am. J. Med. Genet. 93:47–51, 2000. © 2000 Wiley‐Liss, Inc.