Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability - A new syndrome?

Ophthalmic Genetics

Volumn 21, Issue 2, 2000, Pages 117-121

  Waters, F M ^a   Lloyd, I C ^a   Clayton Smith, J ^b  

^a MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Apple peel atresia; Christmas tree atresia; Colobomatous malformation of the optic nerve head; Dysmorphic facies; Learning difficulties; Maypole atresia

Indexed keywords

ARTICLE; CASE REPORT; COLOBOMA; FACE DYSMORPHIA; HUMAN; INTESTINE ATRESIA; LEARNING DISORDER; MALE; OPTIC NERVE; PRIORITY JOURNAL; SYNDROME DELINEATION;

ABIES ALBA; MALUS X DOMESTICA;

EID: 0033892897     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/1381-6810(200006)21:2;1-8;ft117     Document Type: Article

References (10)

1. Seashore JH, Collins FS, Markowitz RI, Seashore WR. Family apple peel jejunal atresia: surgical, genetic and radiographic aspects. Paediatrics 1987;80:540-544.
2. Stromme P, Dalh E, Flage T, Stene-Johansen H. Apple peel atresia in siblings with ocular anomalies and microcephaly. Clin Genet 1993;44:208-210.
3. Stromme P, Andersen W. Developmental aspects in apple peel intestinal atresia - ocular anomalies - microcephaly syndrome. Clin Genet 1997;52:133.
4. Slee J, Goldblatt J. Further evidence for a syndrome of 'apple peel' atresia, ocular anomalies and microcephaly. Clin Genet 1996;50:260-262.
5. Blyth H, Dickson JAS. Apple peel syndrome. A family study of seven index patients. J Med Genet 1968;6:275-277.
6. Farag TI, Teebi AS. Apple peel syndrome in sibs. J Med Genet 1989;26:67-68.
7. Nishikawa A, Mitomori T, Matsuura A, Inoue A, Mori H, Takahashi M. A 13q - syndrome with extensive intestinal atresia. Acta Paediatr Scand 1985;74:305-308.
8. Stevenson RE. Oxford Monographs on Medical Genetics No.27. Human Malformations and Related Anomalies. Oxford: Oxford University Press, 1993; 477-480.
9. Harvey AS, Leaper PM, Bankier A. CHARGE association: clinical manifestations and developmental outcome. Am J Med Genet 1991;39:45-48.
10. Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, Muller D. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet 1995;56:42-59.