Second family with “apple peel” syndrome affecting four siblings: Autosomal recessive inheritance confirmed

Fårag, T I; Al-Awadi, S A; el-Badramany, M H; Usha, R.; El-Ghanem, M.

doi:10.1002/ajmg.1320470126

Cited by 18 publications

(12 citation statements)

References 14 publications

(5 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Apple peel intestinal atresia is a rare form of intestinal atresia that has been described in sibs, possibly due to an autosomal recessive inheritance in at least some families [Al-Awadi et al, 1981;Seashore et al, 1987;Farag and Teebi, 1989;Farag et al, 1993]. Table I summarizes the clinical details of the six previously described patients with apple peel intestinal atresia and anterior eye chamber anomalies and the present case.…”

Section: Discussionmentioning

confidence: 83%

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

Bever

Hest

Wolfs

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the PAX6, FOX1, PITX2, and MYNC genes was normal as was MLPA for these genes. Autosomal recessive inheritance is possible as recurrence in sibs was described, although germ line mosaicism or a microdeletion due to a very small parental translocation cannot be ruled out.

show abstract

Section: Discussionmentioning

confidence: 83%

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

Bever

Hest

Wolfs

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…In this rare form of atresia, there is significant loss of bowel length and small intestinal atresia; the small intestine curls around the superior mesenteric artery giving the impression of an apple peel [24]. Other descriptive terms include ‘Christmas tree’, ‘pagoda’, and ‘maypole’ [25]. Farag et al [25] reported a consanguineous family with four affected sibs, and reviewed the literature, which contains several similar families [26].…”

Section: Intestinal Malrotation: Likely Genetic But Chromosomal Locusmentioning

confidence: 99%

“…Other descriptive terms include ‘Christmas tree’, ‘pagoda’, and ‘maypole’ [25]. Farag et al [25] reported a consanguineous family with four affected sibs, and reviewed the literature, which contains several similar families [26]. In these families, the bowel abnormality is isolated with no other intestinal or extra-intestinal malformations.…”

Section: Intestinal Malrotation: Likely Genetic But Chromosomal Locusmentioning

confidence: 99%

Review of genetic factors in intestinal malrotation

Martin

Shaw‐Smith

2010

Pediatr Surg Int

View full text Add to dashboard Cite

Intestinal malrotation is well covered in the surgical literature from the point of view of operative management, but few reviews to date have attempted to provide a comprehensive examination of the topic from the point of view of aetiology, in particular genetic aetiology. Following a brief overview of molecular embryology of midgut rotation, we present in this article instances of and case reports and case series of intestinal malrotation in which a genetic aetiology is likely. Autosomal dominant, autosomal recessive, X-linked and chromosomal forms of the disorder are represented. Most occur in syndromic form, that is to say, in association with other malformations. In many instances, recognition of a specific syndrome is possible, one of several examples discussed being the recently described association of intestinal malrotation with alveolar capillary dysplasia, due to mutations in the forkhead box transcription factor FOXF1. New advances in sequencing technology mean that the identification of the genes mutated in these disorders is more accessible than ever, and paediatric surgeons are encouraged to refer to their colleagues in clinical genetics where a genetic aetiology seems likely.

show abstract

“…Apple peel atresia [29][30][31][32][33][34][35][36][37][38][39][40][41]: Inheritance shows an autosomal recessive pattern. The level of the proximal atresia is typically at the duodenojejunal junction, without sparing of the first few centimeters of jejunum as is common in nonfamilial cases, and there is almost always associated malrotation.…”

Section: Classmentioning

confidence: 99%

A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia

Shorter

Georges

Perenyi

et al. 2006

Journal of Pediatric Surgery

View full text Add to dashboard Cite

Second family with “apple peel” syndrome affecting four siblings: Autosomal recessive inheritance confirmed

Cited by 18 publications

References 14 publications

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

Review of genetic factors in intestinal malrotation

A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia

Contact Info

Product

Resources

About