Axial mesodermal dysplasia spectrum

American Journal of Medical Genetics
F J StewartS Brown

Abstract

We report on a 4-month-old boy with manifestations of both the oculo-auriculovertebral spectrum and the caudal regression sequence. He has preauricular appendages, thoracic and lumbar hemivertebrae, anomalies of the ribs, dextrocardia, sacral "dysplasia," dislocated hips, bilateral talipes equinovarus, imperforate anus, recto-vesical fistula, malformed scrotum, and undescended testes. As suggested by Russell et al. [1981], who reported a patient with similar anomalies, the spectrum of anomalies probably is due to a generalized alteration in mesodermal cell migration during the primitive streak period. The term "axial mesodermal dysplasia spectrum" best describes the widespread anomalies in the cranial and caudal regions.

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Citations

Sep 1, 2005·Indian Journal of Pediatrics·Seema KapoorBhavna Dhingra
May 7, 2004·Clinical Dysmorphology·Saumil N MerchantLewis B Holmes
Aug 12, 2003·American Journal of Medical Genetics. Part a·Carsten BergmannSabine Rudnik-Schöneborn
May 31, 2012·Fetal and Pediatric Pathology·Jaime Asael López-ValdezMónica Aguinaga-Ríos
Mar 13, 2014·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Keshav T MaggeAlbert K Oh
Mar 8, 2016·Annals of Rehabilitation Medicine·Kang-Won KimSung-Hee Park
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Oct 15, 2019·Orthodontics & Craniofacial Research·Eline E C M ElstenMaarten J Koudstaal
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Sep 15, 2020·BioMed Research International·Thaer M FarhanAbdulhameed S Jubair
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Dec 25, 2003·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Komala PillayHelen C Wainwright

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