A case of syngnathia, cleft palate and hypospadias: An isolated case or syndromic syngnathism?

Turksen, Zeynep; Ozakpinar, Hulda Rifat; Tellioğlu, Ali Teoman

doi:10.1016/j.jcms.2011.02.004

Cited by 11 publications

(8 citation statements)

References 15 publications

(9 reference statements)

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“…CPLSS findings include cleft palate with multiple cordlike adhesions between the free borders of the palate and lateral parts of the tongue and floor of the mouth and abnormal facial features, such as short palpebral fissures, beaked nose, small mouth with protruding lower lip, large cheeks, and short chin. The major findings in Fryns syndrome include coarse face, small eyes, cloudy cornea, cleft of the soft palate, hypoplasia, and absence of lobulation of both lungs, defects of the diaphragm, digitalization of the thumbs, and distal limb deformities [8]. The clinical features in our infant have never been reported in the literature and did not meet the criteria of any of the above syndromes.…”

Section: Discussionmentioning

confidence: 60%

“…No known genetic associations have been made, although syndromes include craniofacial microsomia, Van der Woude syndrome (VWS), popliteal pterygium syndrome (PPS), cleft palate lateral alveolar synechiae syndrome (CPLSS), and Fryns syndrome [7]. VWS is an autosomal dominant disorder characterized primarily by cleft lip or palate and lip pits (85% of cases).8 VWS is the second most common cause of syndromic clefts, second only to chromosome 22q11 microdeletions.8 PPS is similar to VWS except for the additional findings of popliteal and oral webs, nail deformities, syndactyly, ankyloblepharon (fusion of eyelids), and genital anomalies [8]. CPLSS findings include cleft palate with multiple cordlike adhesions between the free borders of the palate and lateral parts of the tongue and floor of the mouth and abnormal facial features, such as short palpebral fissures, beaked nose, small mouth with protruding lower lip, large cheeks, and short chin.…”

Section: Discussionmentioning

confidence: 99%

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An Unusual Case of Congenital Syngnathia

M¹

2015

J Neonatal Biol

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Congenital syngnathia is a rare anomaly characterised by the presence of soft tissue (synechia) or bony adhesions (synostosis) between the maxilla and mandible. A wide spectrum and range of severity have been documented in case reports. Primarily it manifests in the inability to open the mouth; impacting on mandibular growth, nutrition, speech and management of the airway. The bony adhesions can be classified as partial or complete, as well as syndromic and non-syndromic. The aetiology of congenital syngnathia remains unknown. We describe a growth restricted, premature infant diagnosed postnatal with multiple congenital anomalies including syngnathia, craniosynostosis, ventriculomegaly, microcephaly, bilateral cataracts, facial dysmorphism, small kidneys, hypoplastic prepuce of the genitalia and bilateral syndactyly of toes 2, 3 and 4. The rare finding of syngnathia with the associated findings in a premature male infant weighing 1065 g at 31 weeks of corrected gestational age is the first to be reported.

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Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

An Unusual Case of Congenital Syngnathia

M¹

2015

J Neonatal Biol

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“…11,[13][14][15][26][27][28][29] Total 16 cases were demonstrated as bony fusion between the ascending ramus and body of mandible with the zygoma and maxilla. In all 8 cases were isolated bony syngnathia 8,9,11,12,15,24 and 8 cases were complex bony syngnathia. 5,9,19,21,22,24 Within the isolated bony syngnathia cases, 16 were women and 11 were men.…”

Section: Discussionmentioning

confidence: 96%

“…3 Although synechiae may be present in isolation, it is often found along with syndromes 1 such as congenital alveolar synechiae syndrome, Van der Woude syndrome, popliteal pterygium syndrome, cleft palate lateral synechia syndrome, and Fryns syndrome. 8 Congenital bony fusion of the jaws (bony syngnathia) is said to be a rare isolated occurrence. 7 It results from fusion between the maxilla or zygoma and the mandible, 2 or fusion of the mandible to temporal bone.…”

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confidence: 99%

Congenital Bilateral Zygomatico-Maxillo-Mandibular Fusion Associated With Gum Fusion

Al-Mahdi

Koppel

Al‐jumaily

et al. 2016

Journal of Craniofacial Surgery

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A congenial syngnathia is very rare condition. It can be simple mucosal fusion (synechiae), or complete bony fusion (synostosis) between the maxilla or zygoma and the mandible. Fusion of the ascending ramus of mandible to maxilla and zygoma is less common than fusions of the alveolar ridges of the mandible to the maxilla. Bony syngnathia is either isolated or complex in form. There are 59 cases of congenital bony syngnathia reported in the literature: the first report was by Burket in 1936. There are 16 reported cases of zygomatico-maxillo-mandibular fusion. In the reported cases, women expressed the isolated form more commonly whereas men demonstrated a more complex pattern of disease. The authors present another patient of bony syngnathia involving bilateral fusion of the ascending ramus and body of the mandible with the maxillary complex in a young man. Early surgery was performed to release the bony and soft tissue fusion on the eighth day from the baby's birth. A second operation was performed for recurrence when the baby was 2.5 months old. A customized splint, an intense postoperative program of mouth exercises, and close follow-up aims to prevent further refusion.

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“…1 Syngnathia may present as an isolated finding, although it may also be found in syndromes such as Van der Woude Syndrome. 2 Syngnathia is associated with neonatal problems, including difficulty with airway maintenance and protection, and the inability to feed. Although syngnathia involving fusion of the alveolar ridges of the maxilla and the mandible has been known to occur, fusion of the zygomaticomaxillary-mandibular regions is extremely rare (less than 10 patients reported in the literature).…”

mentioning

confidence: 99%

Correction of Unilateral Congenital Zygomatico-Mandibular Fusion

Rough

Hindin²,

Lee³

et al. 2016

Journal of Craniofacial Surgery

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Sygnathia, or fusion of the jaw, is a rare condition in children, occurring either in isolation or as part of a larger overall syndrome. Consequences of this bony fusion may range from feeding difficulties to a complete inability to protect the airway. Owing to the uncommon nature of this problem and the high recurrence of bony fusion, standardized treatment protocols do not yet exist, making individual reports particularly useful for guiding the first-time management of such patients. In this report, we describe the case of a male infant with complete bony fusion of the right zygomatic maxillary complex to the mandible. Fusion was separated by osteotomy, repair of soft tissue with acellular dermal matrix/grafting, and plate separation. Serial jaw manipulation and operative stretching was necessary to prevent refusion of syngnathia even in the long term.

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A case of syngnathia, cleft palate and hypospadias: An isolated case or syndromic syngnathism?

Cited by 11 publications

References 15 publications

An Unusual Case of Congenital Syngnathia

An Unusual Case of Congenital Syngnathia

Congenital Bilateral Zygomatico-Maxillo-Mandibular Fusion Associated With Gum Fusion

Correction of Unilateral Congenital Zygomatico-Mandibular Fusion

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