| Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia. | |
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MedLine Citation:
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PMID: 19940763 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings. The first case is developing normally but has severe limb anomalies, congenital constriction rings, scoliosis because of vertebral anomalies, a left accessory nipple, a small tumor-like swelling on his lower back with tiny skin tubular appendages, a hypoplastic scrotum, and an anchored penis. The second case is developmentally delayed with limb malformations, congenital constriction rings, a lumbar myelomeningeocele, hemangioma, and tiny tubular skin appendages on the back. The patient also had bilateral optic atrophy. The constellation of features in our patients cannot be fully explained by the amniotic disruption complex. The first patient may represent an additional case of the human homolog of the mouse disorganization mutant. The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of septo-optic dysplasia with limb anomalies. Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers. We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies. |
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Authors:
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Samia A Temtamy; Mona S Aglan; Adel M Ashour; Tarek H El-Badry |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 19 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2009-12-16 Completed Date: 2010-02-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 14-22 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt. samiatemtamy@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple Amniotic Band Syndrome / diagnosis*, genetics Consanguinity Developmental Disabilities Egypt Genes, Dominant Humans Infant Infant, Newborn Limb Deformities, Congenital / diagnosis*, genetics Male Mutation Optic Atrophy / diagnosis, genetics Phenotype Septo-Optic Dysplasia / diagnosis*, genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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