A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes

Jung, Ole; Smeets, Ralf; Hanken, Henning; Friedrich, Reinhard E; Heiland, Max; Tagniha, Amir; Labow, Brian I.

doi:10.5507/bp.2016.020

Cited by 4 publications

(3 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hall 1 Chicarilli et al 16 Jung et al 17 Type (2) some patients have cleft palate and others do not. All 3 patients with micrognathia and hypoglossia but only one with cleft palate, the one with limb deformities, what could suggest the genetic mechanism related with cleft palate etiology.…”

Section: Discussionmentioning

confidence: 99%

“…16 However, the boundaries between these subtypes are imprecise due to overlapping presentations mainly in those without limbs anomalies and others classification try to do it. 7,6,15 These patients could be classified as type III A and B or even in Hall's classification 1 as IV A and IV C, D and E. Recently Jung et al 17 has a III A and B. (Table 1).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Syngnathia with Bony Fusion a Clinical Sign or Part of Syndrome: Cases Report and Literature Review

Alonso

Neto

Inaba

et al. 2020

FACE

View full text Add to dashboard Cite

Syngnathia consists in a congenital fusion of maxilla and mandible. It is a rare condition and it may be present in a wide range of severity, from a single mucosal band (synechiae) to a complete bony fusion (synostosis). In this report we present 3 cases of complete congenital bony fusion of the maxilla and mandible with different treatments and outcomes. We discuss the boundaries of the current classification for oromandibular limb hypogenesis syndrome (OLHS) and embryological/developmental aspects related to these conditions. The first case is associated with the cleft palate, hypo development of the tongue, micrognathia and malformations in the 4 limbs and other 2 cases with congenital maxillomandibular fusion without any limbs malformations. In these particularly cases, 2 of them, show complete zygomatic-maxillomandibular fusion. These 3 cases might arouse a discussion about the boundaries of the current classification for OLHS and if syngnathia with bony fusion could be an isolated congenital deformity.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Syngnathia with Bony Fusion a Clinical Sign or Part of Syndrome: Cases Report and Literature Review

Alonso

Neto

Inaba

et al. 2020

FACE

View full text Add to dashboard Cite

show abstract

“…It is characteristically known as a claw hand deformity and can be ruled out by its physical findings. 79…”

Section: Charlie M Syndromementioning

confidence: 99%

Moebius Syndrome: An Updated Review of Literature

Monawwer,

Ali,

Naeem

et al. 2023

Child Neurology Open

View full text Add to dashboard Cite

Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve paresis, ophthalmoplegias, orthodontic deficiencies (including crowded dentition, swollen and hyperplastic gingiva, dental calculus, etc.), musculoskeletal abnormalities, and impaired mental function. Due to the rarity of the disorder, very few case studies have been reported in the literature. This article summarizes the significant features of the disease according to commonalities in reported cases, along with several newly recognized features cited in recent literature. We have explored the different diagnostic criteria and the newly recognized imaging modalities that may be used. Understandably, the condition detrimentally affects a patient’s quality of life; thus, treatment measures have also been outlined. This study aims to provide updated literature on Moebius Syndrome MBS and improve understanding of the condition.

show abstract

Hypoglossia-Hypodactylia Syndrome

Chen¹

2016

Atlas of Genetic Diagnosis and Counseling

View full text Add to dashboard Cite

A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes

Cited by 4 publications

References 23 publications

Syngnathia with Bony Fusion a Clinical Sign or Part of Syndrome: Cases Report and Literature Review

Syngnathia with Bony Fusion a Clinical Sign or Part of Syndrome: Cases Report and Literature Review

Moebius Syndrome: An Updated Review of Literature

Hypoglossia-Hypodactylia Syndrome

Contact Info

Product

Resources

About