Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands

Genetic Counseling

Volumn 19, Issue 1, 2008, Pages 43-46

  Ozalp, O ^a   Ozcimen, E E ^a   Yilmaz, Z ^a   Yanik, F ^a   Sahin, Feride Iffet ^a  

^a BASKENT UNIVERSITY   (Turkey)

Author keywords

Anophthalmia; Cleft lip palate; Genetic counseling

Indexed keywords

ADRENAL DISEASE; ADULT; ANAMNESIS; ANOPHTHALMIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME ANALYSIS; CLEFT LIP; CLEFT PALATE; FEMALE; FETUS; FETUS ECHOGRAPHY; FRYNS SYNDROME; GENETIC COUNSELING; HUMAN; HYPOPLASIA; PREGNANCY TERMINATION;

ABORTION, INDUCED; ADRENAL GLANDS; ADULT; ANOPHTHALMOS; CLEFT LIP; CLEFT PALATE; FEMALE; FETAL DISEASES; GENETIC COUNSELING; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SYNDROME;

EID: 44649111811     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. AKALIN I., SENSES D.A., ILGIN-RUHI H., MISIRLIOGLU E., YALClNER M., CETINKAYA E., FRYNS J.P., TUKUN A.: Novel Fryns 'Anophthalmia- plus' syndrome associated with primary hypothyroidism. Genet. Couns., 2005, 16, 145-148.
2. ARNOLD S.R., DEBICH-SPICER D., OPITZ J.M., GILBERT-BARNESS E.: Documentation of anomalies not previously described in Fryns syndrome. Am. J. Med. Genet., 2003, 116A, 179-182.
3. FRYNS J.P., LEGIUS E., MOERMAN P., VANDENBERGHE K.: Apparently new 'Anophthalmia- plus' syndrome in sibs. Am. J. Med. Genet., 1995, 58, 113-114.
4. MAKHOUL R.I., SOUDACK M., KOCHAVI O., GUILBURD J., MAIMON S., GERSHONIBARUCH R.: Anophthalmia plus syndrome: A clinical report and review of the literature. Am. J. Med. Genet. Part A, 2007, 143A, 64-68.
5. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), {October, 24, 2007}. World Wide Web URL: http://www.ncbi.nlm. nih.gov/entrez/omim/
6. WARBURG M., JENSEN H., PRAUSE J.U., BOLUND S., SKOVBY F., MIRANDA M.J.: Anophthalmia- microphthalmia- oblique clefting syndrome: Confirmation of the Fryns anopthalmia syndrome. Am. J. Med. Genet, 1997, 73, 36-40.
7. WILTSHIRE E., MOORE M., CASEY T., SMITH G., SMITH S., THOMPSON E. FRYNS J.P.: 'Anophthalmia-plus' syndrome associated with developmental regression. Clin. Dysmorphol., 2003, 12, 41-43.