Description:
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Hispanic/Latino
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Country of Origin
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USA
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Family Member
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2
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Relation to Proband
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half-sister
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; birth weight 3.64 kg; anterior fontanelle at birth was widely patent with inner table remodeling; malrotation of the intestines; aberrant right subclavian artery; CT scan of head showed relative hypoplasia of mandible, fusion of the left lambdoidal suture, and subluxation of C1-2 due to missing posterior arch of C1; MRI of spine and brain revealed Chiari-1 malformation with prominence of the ventricles, thinning of the corpus callosum, and brachycephaly due to fusion of the left lambdoidal suture; moderate retardation; can produce a small number of 2 word combinations (at age 4 years 11 months); ambulatory; downward slanting palpebral fissures; open-mouth stance; left posterior plagiocephaly; underbite; flat nasal bridge; forehead is broad and flat; low-set and dysplastic pinna; thickened helices; prominent venous pattern over nasal bridge; high, arched palate; extremities are arachnodactylous without contractures; marfanoid habitus; small joints are lax; echocardiogram showed dilated aortic arch; died at age 5 following complications after intestinal obstruction and bowel rupture; normal female karyotype; see Patient 2 in publication by Shanske, et al (PMID: 22639450);affected maternal half-brother is GM13441. |
| Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B, Germline mosacism in Shprintzen-Goldberg syndrome American journal of medical genetics Part A158A:1574-8 2011 |
| PubMed ID: 22639450 |
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