Yunis-Varon syndrome

Indian Pediatrics

Volumn 42, Issue 4, 2005, Pages 373-375

  Bhatia, Sameer ^a   Holla, R G ^a  

^a ARMY HOSPITAL RESEARCH AND REFERRAL   (India)

Author keywords

Cleidocranial dysplasia; Yunis Varon syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLAVICLE; CLEIDOCRANIAL DYSPLASIA; CLINICAL FEATURE; FINGER MALFORMATION; GROWTH RETARDATION; HUMAN; MALE; NEWBORN; RARE DISEASE; SKULL; TOE MALFORMATION; YUNIS VARON SYNDROME;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CRANIOFACIAL ABNORMALITIES; FATAL OUTCOME; FEMALE; FINGERS; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; NIPPLES; POLYHYDRAMNIOS; PREGNANCY; SCROTUM; SYNDROME; TOES;

EID: 18644372400     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Yunis E, Varon H. Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: A new genetic syndrome. Am J Dis Child 1980; 134: 649-653.
2. Pfeiffer RA, Diekmann L, Stock HJ. Aplasia of the thumbs and great toes as the outstanding feature of Yunis. and Varon syndrome: A new entity, a new observation. Ann Genet 1988; 31: 241-243.
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7. Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, et al. Yunis-Varon syndrome: Evidence for a lysosomal storage disease. Am J Med Genet 2000; 95: 157-160.
8. Dworzak F, Mora M, Borroni C, Cornelio F, Blasevich F, Cappellini A, et al. Generalized lysosomal storage in Yunis-Varon syndrome. Neuromuscul Disord 1995; 5: 423-428.
9. Christie J, Sacks S, Decorato D, Bergasa NV. Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Vaton syndrome. J Clin Gastroenterol 1999; 29: 210-211.