Yunis-Varon syndrome: Further delineation of the phenotype

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 532-537

  Basel Vanagaite, Lina ^a,b,c   Kornreich, Liora ^a,b   Schiller, Ofer ^a   Yacobovich, Joanne ^a,b   Merlob, Paul ^b,c  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

Author keywords

Hydrops fetalis; Limb defects; Primary pulmonary hypertension; Yunis Varon syndrome

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; EVALUATION; FEMALE; FETUS HYDROPS; FETUS RISK; HUMAN; HYPOTRICHOSIS; LIMB DEFECT; MOLECULAR BIOLOGY; NEWBORN; PHENOTYPE; POSTNATAL CARE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PULMONARY HYPERTENSION; REVIEW; YUNIS VARON SYNDROME;

CENTRAL NERVOUS SYSTEM; COGNITION; CRANIOFACIAL ABNORMALITIES; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; POLYHYDRAMNIOS; PREGNANCY; SYNDROME;

EID: 38849193482     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32135     Document Type: Review

References (15)

1. Adès LC, Morris LL, Richardson M, Pearson C, Haan EA. 1993. Congenital heart malformation in Yunis-Varon syndrome. J Med Genet 30:788-792.
2. Bhatia S, Holla RG. 2005. Yunis-Varon syndrome. Indian Pediatr 42:373-375.
3. Christie J, Sacks S, Decorato D, Bergasa NV. 1999. Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome. J Clin Gastroenterol 29:210-211.
4. Dworzak F, Mora M, Borroni C, Cornelio F, Blasevich F, Cappellini A, Tagliavini F, Bertagnolio B. 1995. Generalized lysosomal storage in Yunis Varon syndrome. Neuromuscul Disord 5:423-428.
5. Garrett C, Berry AC, Simpson RH, Hall CM. 1990. Yunis Varon syndrome with severe osteodysplasty. J Med Genet 27:114-121.
6. Hennekam RC, Vermeulen-Meiners C. 1989. Further delineation of the Yunis-Varon syndrome. J Med Genet 26:55-58.
7. Hughes HE, Partington MW. 1983. Brief clinical report: The syndrome of Yunis and Varon - Report of a further case. Am J Med Genet 14:539-544.
8. Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S, Mohammed Z, Kulkarni PM. 2006. Yunis Varon syndrome. Indian J Pediatr 73:353-355.
9. Lapeer GL, Fransman SL. 1992. Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome. Oral Surg Oral Med Oral Pathol 73:456-460.
10. Partington MW. 1988. Cardiomyopathy added to the Yunis Varon syndrome. Proc Greenwood Genet 7:224-225.
11. Pfeiffer RA, Diekmann L, Stock HJ. 1988. Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation. Ann Genet 31:241-243.
12. Rabe H, Brune T, Rossi R, Steinhorst V, Jorch G, Horst J, Wittwer B. 1996. Yunis-Varon syndrome: The first case of German origin. Clin Dysmorphol 5:217-222.
13. Sumi M, Kusumoto T, Kondoh T, Moriuchi H, Miyamoto M, Masuzaki H, Ishimaru T. 2004. A case of Yunis-Varon syndrome complicated with complete cleft lip and palate. Am J Med Genet Part A 125A:92-93.
14. Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, Wiestler OD, Bartmann P. 2000. Yunis-Varon syndrome: Evidence for a lysosomal storage disease. Am J Med Genet 95:157-160.
15. Yunis E, Varon H. 1980. Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: A new genetic syndrome. Am J Dis Child 134:649-653.