Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

Gillerot, Y.; Maldergem, Lionel Van; R, Chef; Koulischer, L

doi:10.1136/jmg.28.7.490

Cited by 7 publications

(4 citation statements)

References 4 publications

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“…Hypoglossia-hypodactylia syndrome is a difficult disease to treat because the method of forming the tongue to make it functional has not been established. There are many reports of hypoglossia-hypodactylia syndrome [1][2][3][4][5], but the extent of hypoplasia of the tongue and limbs varies. Hypoglossia-hypodactylia syndrome has been classified by Hall as oromandibular and limb hypogenesis syndromes [1].…”

Section: Discussionmentioning

confidence: 99%

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report

Umeda¹,

Shiraishi²,

Mishima³

2023

Cureus

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Hypoglossia-hypodactylia syndrome is an extremely rare congenital anomaly characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs, with a risk of dysarthria and dysphagia. We report the articulation function and the swallowing function of a patient with hypoglossia-hypodactylia syndrome who was followed up to eight years old. Our patient did not have feeding and swallowing disturbances. She did not have articulatory disturbance, including /t/ and /r/, of the sound articulated using a proglossis. In the future, it is necessary to have a plastic operation for abnormal adhesion of the lower lip and mandibular gingiva and depression on the lower lip, and distraction osteogenesis for micrognathia. Also, it will be necessary to continuously monitor for an articulatory disturbance until the child uses more words. Therefore, a long-term intervention with a multidisciplinary approach is necessary.

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Section: Discussionmentioning

confidence: 99%

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report

Umeda¹,

Shiraishi²,

Mishima³

2023

Cureus

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“…In Moebius syndrome and hypoglossia‐hypodactyly syndrome, histopathologic investigations of the brain stem [Govaert et al, 1989; Lipson et al, 1989; Gillerot et al, 1991; Lipson and Weaver, 1992; St Charles et al, 1993] and animal experimentation [Ranck and Windle, 1959; Lipson et al, 1989] indicated a role for vascular disruption in the pathogenesis of these conditions, and the term subclavian artery supply disruption sequence has been proposed [Bouwes Bavinck and Weaver, 1986].…”

Section: Discussionmentioning

confidence: 99%

“…Occasionally associated malformations other than orofacial and limb defects have been observed in OLHS, including intestinal atresia [Nevin et al, 1980; David et al, 1992], unilateral renal agenesis [Johnson and Robinow, 1978], imperforate anus [Bersu et al, 1976] and hydrocephalus [Gillerot et al, 1991]. A few patients with pulmonary hypoplasia [Chicarilli and Polayes, 1985; Shechter et al, 1990; Maruyama and Koizumi, 2001] and a single female patient with gastroschisis [Kiliç et al, 2001] have been described.…”

Section: Introductionmentioning

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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“…The etiology of this uncommon syndrome remains unknown and both environmental and genetic factors have been regarded (2). Estimated prevalence is 1:500.000 (1).…”

Section: Introductionmentioning

confidence: 99%

Síndrome de Richner-Hanhart e suas manifestações otorrinolaringológicas: relato de caso

Tinoco

Pais

Filho³

et al. 2011

Arquivos Int. Otorrinolaringol. (Impr.)

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Summary Introduction:?Richner-Hanhart Syndrome is characterized by the absence in a variable degree of distal portions of one or more extremities, in association with micrognathia and severe microglossia. The etiology of this infrequent syndrome remains unknown. Case Report:?In this article, we report the case of a patient with Richner-Hanhart Syndrome, who showed an absence of the back third of the tongue, micrognathia, malformation of fingers and toes, as well as nasal septum deviation to the left. Final Comments:?The treatment comprises a tyrosine-restricted diet together with a continuous follow-up with an otorhinolaryngologist and a physiotherapist.

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Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

Cited by 7 publications

References 4 publications

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report

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

Síndrome de Richner-Hanhart e suas manifestações otorrinolaringológicas: relato de caso

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