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A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents.
Genet Couns. 1994; 5(2):161-5.GC

Abstract

We report on three sibs (two females, one male) with a syndrome including physical and mental developmental delay, facial dysmorphia, an increased number of skin folds and recurrent infections. Pulmonary infections were especially severe and frequent, leading to bronchiectasis. Steatorrhea was intermittent. A sweat test was normal. Congenital heart defect was present in two sibs and vesico-ureteral reflux was diagnosed in two sibs. Neutropenia was the most obvious immunological defect. Myelodysplasia was noted. Acute myeloblastic leukemia developed in one sib. The healthy parents of the patients are first cousins. The consanguinity of the parents points-to an autosomal recessive mode of inheritance of this new syndrome but a mitochondrial disorder cannot be excluded.

Authors+Show Affiliations

Institut de puériculture, Centre hospitalier et universitaire, Strasbourg.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7917125

Citation

Stoll, C, et al. "A Syndrome of Facial Dysmorphia, Birth Defects, Myelodysplasia and Immunodeficiency in Three Sibs of Consanguineous Parents." Genetic Counseling (Geneva, Switzerland), vol. 5, no. 2, 1994, pp. 161-5.
Stoll C, Alembik Y, Lutz P. A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents. Genet Couns. 1994;5(2):161-5.
Stoll, C., Alembik, Y., & Lutz, P. (1994). A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents. Genetic Counseling (Geneva, Switzerland), 5(2), 161-5.
Stoll C, Alembik Y, Lutz P. A Syndrome of Facial Dysmorphia, Birth Defects, Myelodysplasia and Immunodeficiency in Three Sibs of Consanguineous Parents. Genet Couns. 1994;5(2):161-5. PubMed PMID: 7917125.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents. AU - Stoll,C, AU - Alembik,Y, AU - Lutz,P, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 161 EP - 5 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 5 IS - 2 N2 - We report on three sibs (two females, one male) with a syndrome including physical and mental developmental delay, facial dysmorphia, an increased number of skin folds and recurrent infections. Pulmonary infections were especially severe and frequent, leading to bronchiectasis. Steatorrhea was intermittent. A sweat test was normal. Congenital heart defect was present in two sibs and vesico-ureteral reflux was diagnosed in two sibs. Neutropenia was the most obvious immunological defect. Myelodysplasia was noted. Acute myeloblastic leukemia developed in one sib. The healthy parents of the patients are first cousins. The consanguinity of the parents points-to an autosomal recessive mode of inheritance of this new syndrome but a mitochondrial disorder cannot be excluded. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/7917125/A_syndrome_of_facial_dysmorphia_birth_defects_myelodysplasia_and_immunodeficiency_in_three_sibs_of_consanguineous_parents_ L2 - http://www.diseaseinfosearch.org/result/854 DB - PRIME DP - Unbound Medicine ER -