Abstract |
We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR syndrome, Schinzel-Giedion syndrome, and Rudiger syndrome.
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Authors | Jean-Luc Alessandri, Fabrice Cuillier, Valerie Malan, Claire Brayer, Maeva Grondard, Laure Jacquemot-Dekkak, Marie Kieffer-Traversier, Florence Pierre, Céline Laurain, Sylvain Samperiz, Isabelle Tiran-Rajaofera, Duksha Ramful |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 164A
Issue 3
Pg. 648-54
(Mar 2014)
ISSN: 1552-4833 [Electronic] United States |
PMID | 24357154
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2013 Wiley Periodicals, Inc. |
Topics |
- Comparative Genomic Hybridization
- Craniofacial Abnormalities
(diagnosis, genetics)
- Facies
- Fatal Outcome
- Female
- Hand Deformities, Congenital
(diagnosis, genetics)
- Hearing Loss, Sensorineural
(diagnosis, genetics)
- Hernia, Diaphragmatic
(diagnosis, genetics)
- Hernias, Diaphragmatic, Congenital
- Humans
- Indian Ocean Islands
- Infant
- Intellectual Disability
(diagnosis, genetics)
- Limb Deformities, Congenital
(diagnosis, genetics)
- Male
- Nails, Malformed
(diagnosis, genetics)
- Phenotype
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