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Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Am J Med Genet. 2002 Apr 22; 109(2):139-48.AJ

Abstract

Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients--four with atypical NLS and one with typical NLS. All five patients were stillbirths. Clinically, the atypical NLS patients showed a large skull; rhizo-, meso-, and acromelia; and hypoplasia of the metacarpals and phalanges. The feet were similarly affected. Radiographically, the atypical patients showed interpediculate narrowing and hypoplastic vertebral bodies. The long bones were stick-like, showing diaphyseal widening that spared the metaphyses and was more pronounced in the lower extremities. The ilia had a half-moon configuration with widening of the sacrosciatic notches. The ischia were vertical and the pubic bone was absent. The typical NLS patient showed microcephaly, normal vertebral body, and long bone ossification, but a pelvic configuration similar to that of the atypical NLS patients. The common and distinguishing clinical and radiographic features are reviewed. Scott et al. [1981: Am J Med Genet 9:165-175] described two patients with NLS with radiographic and clinical findings similar to patients 1-4 reported here. Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia.

Authors+Show Affiliations

International Skeletal Dysplasia Registry, Cedars Sinai Medical Center, Los Angeles, California 90048, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11977163

Citation

Elliott, Alison M., et al. "Cerebro-osseous-digital Syndrome: Four New Cases of a Lethal Skeletal Dysplasia--distinct From Neu-Laxova Syndrome." American Journal of Medical Genetics, vol. 109, no. 2, 2002, pp. 139-48.
Elliott AM, Gonzales M, Hoeffel JC, et al. Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. Am J Med Genet. 2002;109(2):139-48.
Elliott, A. M., Gonzales, M., Hoeffel, J. C., Le Merrer, M., Maroteaux, P., Encha-Razavi, F., Joye, N., Berchel, C., Fliegel, C., Aughton, D. J., Beaudry-Rodgers, K., Hasteh, F., Nerlich, A. G., Wilcox, W. R., Rimoin, D. L., Lachman, R. S., & Freisinger, P. (2002). Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. American Journal of Medical Genetics, 109(2), 139-48.
Elliott AM, et al. Cerebro-osseous-digital Syndrome: Four New Cases of a Lethal Skeletal Dysplasia--distinct From Neu-Laxova Syndrome. Am J Med Genet. 2002 Apr 22;109(2):139-48. PubMed PMID: 11977163.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. AU - Elliott,Alison M, AU - Gonzales,Marie, AU - Hoeffel,Jean-Claude, AU - Le Merrer,Martine, AU - Maroteaux,Pierre, AU - Encha-Razavi,Ferechte, AU - Joye,Nicole, AU - Berchel,Colette, AU - Fliegel,Christian, AU - Aughton,David J, AU - Beaudry-Rodgers,Kelly, AU - Hasteh,Farnez, AU - Nerlich,Andreas G, AU - Wilcox,William R, AU - Rimoin,David L, AU - Lachman,Ralph S, AU - Freisinger,Peter, PY - 2002/4/27/pubmed PY - 2002/8/29/medline PY - 2002/4/27/entrez SP - 139 EP - 48 JF - American journal of medical genetics JO - Am J Med Genet VL - 109 IS - 2 N2 - Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients--four with atypical NLS and one with typical NLS. All five patients were stillbirths. Clinically, the atypical NLS patients showed a large skull; rhizo-, meso-, and acromelia; and hypoplasia of the metacarpals and phalanges. The feet were similarly affected. Radiographically, the atypical patients showed interpediculate narrowing and hypoplastic vertebral bodies. The long bones were stick-like, showing diaphyseal widening that spared the metaphyses and was more pronounced in the lower extremities. The ilia had a half-moon configuration with widening of the sacrosciatic notches. The ischia were vertical and the pubic bone was absent. The typical NLS patient showed microcephaly, normal vertebral body, and long bone ossification, but a pelvic configuration similar to that of the atypical NLS patients. The common and distinguishing clinical and radiographic features are reviewed. Scott et al. [1981: Am J Med Genet 9:165-175] described two patients with NLS with radiographic and clinical findings similar to patients 1-4 reported here. Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11977163/Cerebro_osseous_digital_syndrome:_four_new_cases_of_a_lethal_skeletal_dysplasia__distinct_from_Neu_Laxova_Syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=109&issue=2&spage=139 DB - PRIME DP - Unbound Medicine ER -