Amelia, cleft lip, and holoprosencephaly: A distinct entity

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2828-2831

  Kariminejad, Ariana ^a   Goodarzi, Payman ^a   Asghari Roodsari, Alaleh ^a   Kariminejad, Mohamad Hasan ^a  

^a Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

Author keywords

Amelia; Cleft lip; Holoprosencephaly

Indexed keywords

ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME ANALYSIS; CLEFT LIP; ECHOGRAPHY; FETUS; GESTATION PERIOD; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE; MALE; PHOCOMELIA; PREGNANCY TERMINATION; PRIORITY JOURNAL;

ADULT; CLEFT LIP; ECTROMELIA; FEMALE; FETUS; GESTATIONAL AGE; HOLOPROSENCEPHALY; HUMANS; INFANT; MALE;

EID: 71949119742     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32933     Document Type: Article

References (22)

1. Buscher D, Ruther U. 1998. Expression profile of Gli family members and Shh in normal and mutant mouse limb development. Dev Dyn 211: 88-96. (Pubitemid 28035814)
2. Cohen MM Jr. 1989. Prespectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34: 271-288.
3. Froster UG, Briner J, Zimmermann R, Huch R, Huch A. 1996. Bilateral brachial amelia, facial clefts, omphalocele:Arecurrent fetal malformation pattern coming into focus. Clin Dysmorphol 5:171-174.
4. Froster-Iskenius UG, Baird PA. 1990. Amelia: Incidence and associated defects in a large population. Teratology 40:1-9.
5. Garcia CA, Duncan C. 1977. Atelencephalic microcephaly. Dev Med Child Neurol 19:227-232.
6. Gutierrez J, Sepulveda W, Saez R, Carstens E, Sanchez J. 2001. Prenatal diagnosis of 13q-syndrome in a fetus with holoprosencephaly and thumb agenesis. Ultrasound Obstet Gynecol 17:166-168.
7. Lemire RJ, Cohen MM Jr, Beckwith JB, Kokich VG, Siebert JR. 1981. The facial features of holoprosencephaly in anencephalichuman specimens. I. Historical review and associated malformations. Teratology 23:297-303.
8. Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED. 1979. Brief clinical reports: Aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. Am J Med Genet 3:301-309.
9. McPherson E, Huff D, Dunn J, Muenke M. 2004. Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? Birth Defects Res 79:537-544.
10. Nagai T, Aruga J, Takada S, Günther T, Sporle R, Schughart K, Mikoshiba K. 1997. The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation. Dev Biol 182: 299-313. (Pubitemid 27145481)
11. Opitz JM, Slungaard R, Edwards RH, Inhorn SL, Muller J, deVenecia G. 1969. Report of a patient with a presumed Dq-syndrome. BDOAS 5:93-99.
12. Opitz JM, Zanni G, Reynolds JF Jr, Gilbert-Barness E. 2002. Defects of blastogenesis. Am J Med Genet 115:269-286.
13. Pierri NB, Lecora M, Passariello A, Scala I, Andria G. 2000. New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. Am J Med Genet 91:123-125. (Pubitemid 30133648)
14. Renzetti G, Villani A, Bizzarri C, Chessa L, Vignati E, Gianotti A, Cappa M, Szakacs J, Townsend JJ, Miller ME, Opitz JM, Kennedy AM, Byrne JL. 2005. XK-aprosencephaly and related entities. Am J Med Genet Part A 138A:401-410.
15. Siebert JR, Schoenecker KA, Resta RG, Kapur R. 2005. Holoprosencephaly and limb reduction defects: A consideration of Steinfeld syndrome and related conditions. Am J Med Genet Part A 134A:381-392. (Pubitemid 40604064)
16. Spinner NB, Eunpu DL, Austria JR, Mamunes P. 1991. Holoprosencephaly in a newborn girl with 46, XX,i(18q). Am J Med Genet 39:11-12.
17. Steinbach P, Rehder H. 1987. Tetrasomy for the short arm of chromosome 12 with accessory isochromosome [+i(12p)] and a marked LDH-B gene dosage effect. Clin Genet 32:1-4. (Pubitemid 17102304)
18. Steinfeld HJ. 1982. Case report 81: Holoprosencephaly and visceral defects with familial limb abnomalties. Syndr Ident 8:1-2.
19. Thomas M, Donnai D. 1994. Bilateral brachial amelia with facial clefts and holoprosencephaly. Clin Dysmorphol 3:266-269. (Pubitemid 24260186)
20. Vokes SA, Ji H, Wang WH, McMahon AP. 2008. Agenome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb. Genes Dev 22:2651-2663.
21. Yim DKC, Ebbin AJ. 1982. Case report 82. Syndr Ident 8:3-5.
22. Zimpfer A, Peter M, Dombrowski U, Tolnay M, Meyer P, Bruder E. 2007. Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch. Fetal Pediatr Pathol 26:169-176. (Pubitemid 350258494)