An unusual case of oromandibular–limb hypogenesis syndrome

Perks, T. J.; Walt, J.C. van der; Levin, Andrew; Graewe, Frank R.

doi:10.1007/s00238-008-0250-2

Cited by 2 publications

(4 citation statements)

References 10 publications

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“…Past medical history for exposure of the mother to drugs during pregnancy was positive in a case report. 14 A similar history was reported in our case. Multiple site involvement and the wide range and combination of anomalies make classification difficult.…”

Section: Discussionsupporting

confidence: 88%

“…It was first reported by Rosenthal 14 in 1932 as aglossia congenita. The OLHS is a rare complex of jaw and limb defects with unclear aetiology.…”

Section: Discussionmentioning

confidence: 99%

“… 12 There seems to be no sex predilection. 14 However, the proposed aetiology is heredity, maternal hyperthermia and positive drug history during pregnancy. This syndrome sometimes presents with cranial nerve palsies (sixth and seventh).…”

Section: Discussionmentioning

confidence: 99%

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

Castelino

Shetty²,

Babu³

et al. 2010

Dental Research

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Section: Discussionsupporting

confidence: 88%

“…It was first reported by Rosenthal 14 in 1932 as aglossia congenita. The OLHS is a rare complex of jaw and limb defects with unclear aetiology.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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

Castelino

Shetty²,

Babu³

et al. 2010

Dental Research

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“…The intriguing link between orofacial and extremity abnormalities can be explained by their simultaneous development during the fourth to eighth week of gestation. Limb bud and pharyngeal arch development occurs in the same period, making both areas susceptible to the same teratogenic stimuli (Perks et al, 2008; Cappellette et al, 2013). Additionally, the homeobox genes are related to growth factors in both craniofacial and limb axis development (Perks et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Oromandibular Limb Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia Superior With Severe Limb Defects

Carvalho

Pinto

Sousa

et al. 2020

The Cleft Palate Craniofacial Journal

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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. In this report, we describe a newborn girl with paralysis of abducens and facial nerves, transverse agenesis of the distal segments of the limbs, micrognathia, cleft lip and palate, and ankyloglossia superior. This observation confirms an overlap between Moebius syndrome and ankyloglossia superior syndrome with severe limb defects. The etiology of the OLHS is not clearly understood. The intriguing link between facial and limb anomalies can result from their simultaneous development from the fourth to eighth week of gestation, making both areas susceptible to the same teratogenic stimuli. There is an overlap between OLHS conditions, supporting a clustering, rather than a divided nosology and requiring an appropriate classification of these conditions. Patients with OLHS can be successfully managed using a multidisciplinary approach.

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An unusual case of oromandibular–limb hypogenesis syndrome

Cited by 2 publications

References 10 publications

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

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

Oromandibular Limb Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia Superior With Severe Limb Defects

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