Medical genetics 1961

McKusick, Victor A.

doi:10.1016/0021-9681(62)90001-2

Cited by 13 publications

(2 citation statements)

References 738 publications

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“…Shah et al also had described PRS in four siblings, which included a set of twins ( 9 ). Smith and Stowe reported affected brothers in 1961 ( 10 ), and a year later patients were pictured by McKusick who raised the possibility that these brothers might had either Stickler syndrome or Wagner syndrome ( 11 ). Others argued that Stickler syndrome should be considered first in cases of the Pierre Robin syndrome, especially in familial incidences ( 12 ).…”

Section: Discussionmentioning

confidence: 99%

Identical twins with Pierre Robin syndrome; unusual encounter

et al. 2017

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New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies. The treatment is a step-by-step approach, but all procedures are mainly directed to widening the pharyngeal space.

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Section: Discussionmentioning

confidence: 99%

Identical twins with Pierre Robin syndrome; unusual encounter

et al. 2017

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“…The disease is hereditary, but its mode of transmission is not fully clarified. The responsible gene is presum ably linked to the X-chromosome, since the majority of cases have been encountered in females (6,II,12,13). The disease is pre sumably due to a lesion of the neural crest, which may give rise to various congenital anomalies.…”

Section: Incontinentia Pigment! In a Newborn Boymentioning

confidence: 99%