A novel Fryns «anophthalmia-plus» syndrome associated with primary hypothyroidism

Genetic Counseling

Volumn 16, Issue 2, 2005, Pages 145-148

  Akalin, I ^a   Senses D A ^b   Ilgin Ruhi, Hatice ^a   Misirlioglu E ^b   Yalciner M ^c,d   Cetinkaya E ^e   Fryns, J P ^f   Tukun A ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b SSK Ankara Maternity and Women's Health Teaching Hospital   (Turkey)

^c 29 Mayis Hospital   (Turkey)

^d Ophthalmology Unit   (Turkey)

^e Dept of Obstetrics and Gynecology   (Turkey)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Congenital hypothyroidism; Fryns anophthalmia plus syndrome

Indexed keywords

ELECTROLYTE; THYROGLOBULIN; THYROTROPIN;

ANOPHTHALMIA; ARTICLE; BRAIN TOMOGRAPHY; CASE REPORT; CHROMOSOME ANALYSIS; DISEASE ASSOCIATION; ECHOGRAPHY; ELECTROLYTE BLOOD LEVEL; FAMILY HISTORY; FRYNS SYNDROME; HUMAN; HYPOTHYROIDISM; KARYOTYPE 46,XY; MALE; NEWBORN; NEWBORN SCREENING; VAGINAL DELIVERY; CHROMOSOME ABERRATION; CLEFT LIP; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; EYELID; GENETICS; HYPOPARATHYROIDISM; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; RECESSIVE GENE; SYNDROME;

ABNORMALITIES, MULTIPLE; ANOPHTHALMOS; CHROMOSOME ABERRATIONS; CLEFT LIP; CRANIOFACIAL ABNORMALITIES; EYELIDS; GENES, RECESSIVE; HUMANS; HYPOPARATHYROIDISM; INFANT, NEWBORN; MALE; PHENOTYPE; SYNDROME;

EID: 22444433734     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. ARNOLD S.R., DEBICH-SPICER D.D., OPITZ J.M. GILBERT BARNESS E.: Documentation of anomalies not previously described in Fryns syndrome. Am. J. Med. Genet., 2003, 122A, 89-90.
2. BEHRMAN E.B., KLIEGMAN R.M., JENSON H.B.: Nelson Textbook of Pediatrics, Philadelphia, W.B. Saunders Company, 2000.
3. FRYNS J., LEGIUS E., MOERMAN P., VANDENBERGHE K., VAN DEN BERGHE H.: Apparently new «anophthalmia-plus» syndrome in sibs. Am. J. Med. Genet., 1995, 58, 113-114.
4. LEICTHMAN L.G., WOOD B., ROHN R.: Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect. Am. J. Med. Genet., 1994, 50, 39-41.
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6. WARBURG M., JENSEN H., PRAUSE J.U., BOLUND S., SKOVBY F., MIRANDA M.J.: Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. Am. J. Med. Genet., 1997, 73, 36-40.
7. WILTSHIRE E., MOORE M., CASEY T., SMITH G., SMITH S., THOMPSON E.: Clin. Dysmorphol., 2003, 12, 41-43.