Persistent buccopharyngeal membrane with cleft palate

Pillai, K. Gopalakrishna; Kamath, V.V.; Kumar, G.S.; Nagamani, N.

doi:10.1016/0030-4220(90)90319-n

Cited by 18 publications

(11 citation statements)

References 2 publications

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“…In mammals, virtually nothing is known about the molecular control of primary mouth formation, but several craniofacial syndromes, including CHARGE, Down, Holzgreve–Wagner–Rehder, Greig cephalopolydactyly syndrome (GCPS) and synostotic syndromes, as well as cleft palate, have been associated with persistent BPM (Kliegman, 2011; DéMurger et al, 2014; Pillai et al, 1990; Verma and Geller, 2009). Notably, Holzgreve–Wagner–Rehder syndrome involves cleft palate and postaxial polydactyly, phenotypes associated with Hh perturbation (Legius et al, 1988).…”

Section: Introductionmentioning

confidence: 99%

Hedgehog activity controls opening of the primary mouth

Tabler

Bolger

Wallingford

et al. 2014

Developmental Biology

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To feed or breathe, the oral opening must connect with the gut. The foregut and oral tissues converge at the primary mouth, forming the buccopharyngeal membrane (BPM), a bilayer epithelium. Failure to form the opening between gut and mouth has significant ramifications, and many craniofacial disorders have been associated with defects in this process. Oral perforation is characterized by dissolution of the BPM, but little is known about this process. In humans, failure to form a continuous mouth opening is associated with mutations in Hedgehog (Hh) pathway members; however, the role of Hh in primary mouth development is untested. Here, we show, using Xenopus, that Hh signaling is necessary and sufficient to initiate mouth formation, and that Hh activation is required in a dose-dependent fashion to determine the size of the mouth. This activity lies upstream of the previously demonstrated role for Wnt signal inhibition in oral perforation. We then turn to mouse mutants to establish that SHH and Gli3 are indeed necessary for mammalian mouth development. Our data suggest that Hh-mediated BPM persistence may underlie oral defects in human craniofacial syndromes.

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Section: Introductionmentioning

confidence: 99%

Hedgehog activity controls opening of the primary mouth

Tabler

Bolger

Wallingford

et al. 2014

Developmental Biology

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“…This condition has also previously been reported as ''persistent buccopharyngeal membrane'' in the literature. The term, ''buccopharyngeal membrane'' has also been used to describe intraoral bands without true obstruction or atresia; this condition is not part of this review [14,15].…”

Section: Discussionmentioning

confidence: 99%

Oropharyngeal atresia in a preterm infant: A case report and review of the literature

Lee

O-Lee

Madan

et al. 2007

International Journal of Pediatric Otorhinolaryngology

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“…Temporomandibular joint ankylosis with the presence of narrow gaps can make it difficult to keep the infant stable and often requires a tracheostomy under general anaesthesia (Parkins and Boamah, 2009). Soft tissue adhesions are more common than bony adhesions, but division of both types is associated with excellent outcomes as the temporomandibular joints and muscles of mastication are usually normal (Pillai et al, 1990). Congenital interalveolar synechia frequently have syndromic associations, although isolated cases do occur (Chiabi et al, 2008).…”

Section: Introductionmentioning

confidence: 98%