Aglossia‐adactylia syndrome (special emphasis on the inheritance pattern)

Tunçbılek, Ergül; Yalçın, Cengiz; Atasü, M

doi:10.1111/j.1399-0004.1977.tb01338.x

Cited by 29 publications

(1 citation statement)

References 5 publications

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“…The etiology of OLHS is likely heterogeneous. Teratogenic drugs [Spivack and Bennett, 1968; Hall, 1971; Herrmann et al, 1976; Tuncbilek et al, 1977; Nevin et al, 1980; Bokesoy et al, 1983], intrauterine membranous strands [Torpin, 1968], vascular disruption [Lipson and Webster, 1993], chorionic villus sampling [Gruber and Burton, 1994], high maternal fever during gestation [Martínez‐Frías et al, 2001], and autosomal dominant [Temtamy and McKusick, 1969] as well as autosomal recessive [Dellagrammaticas et al, 1982] gene defects have been considered as causes of OLHS.…”

Section: Discussionmentioning

confidence: 99%

Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia

Brockmann

Backes

Auber

et al. 2009

American J of Med Genetics Pt A

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The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition.

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