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

Abstract

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.

Associated malformations and the “hidden mortality” of gastroschisis

“…Cardiac defects (exclusive of PDA) associated with gastroschisis include septal defects, tetralogy of Fallot, Ebstein anomaly, aortic coarctation, double-outlet right ventricle, transposition of the great arteries, and pulmonic outflow obstruction [12,20,21]. Facial malformations reported in co-occurrence with gastroschisis include facial clefting [16,[20][21][22][23] and oromandibular limb hypogenesis syndrome [24,25]. Musculoskeletal abnormalities reported include limb reduction defects [16,26], clubfoot [27], and skeletal dysplasias [16,28,29].…”

Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

“…The etiology of OMHL is currently unknown, but appears to be heterogeneous [2]. We propose that the additional anomalies seen in our patient are part of the same spectrum of vascular defects associated with OMLH.…”

“…The term oromandibular limb hypogenesis syndrome (OMLH; OMIM 103300), also known as Hanhart or hypoglossia hypodactyly syndrome, encompasses a group of uncommon disorders characterized by malformations in the mouth (intraoral bands, glossopalatine ankylosis or microglossia/hypoglossia), jaw (micrognathia) and limbs (hypodactyly, hypomelia or peromelia) [1]. OMLH has been associated with gastroschisis, pulmonary hypoplasia, intestinal atresia, renal agenesis, hydrocephalus and other syndromes such as Moebius, Pierre Robin and amniotic bands [2]. Here we describe a boy of Mexican origin with features of OMLH.…”

Oromandibular-limb hypogenesis syndrome type II C: a rare case

“…1 In 1971, Hall classified OLHS into 5 major types and according to this, the case report presented here falls under type II C, which is hypoglossia-hypodactylomelia syndrome. 2,3 The hypoglossia-hypodactyly syndrome, the Moebius syndrome, the Hanhart syndrome, the Charlie M syndrome and OMLH are possibly variants of the same condition, and it is often difficult to define the phenotypic boundaries between them.…”

“…4,5 There is considerable overlap between these syndromes gathered under the term OLHS, with a marked variability of face and limb anomalies as well as other additional malformations. 1 Limb deficiencies are major congenital malformations and can result from a number of etiological factors. 6 Heat-induced vascular disruption has been considered as one of the etiological factors for these syndromes.…”