Tags

Type your tag names separated by a space and hit enter

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
Am J Med Genet. 1995 Nov 20; 59(3):329-33.AJ

Abstract

Simpson-Golabi Behmel syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al. [1975: BD:OA XI(2):18-24], a wide clinical range of cases has been reported. There is great variability in severity, ranging from a mild form associated with long-term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. In 8 reported families, affected individuals died in infancy. Here we present 4 maternally related, male cousins with a severe variant of SGBS. One of these males was aborted therapeutically at 19 weeks of gestation following the detection of multicystic kidneys on ultrasound. The 3 liveborn males were hydropic at birth with a combination of craniofacial anomalies including macrocephaly; apparently low-set, posteriorly angulated ears; hypertelorism; short, broad nose with anteverted nares; large mouth with thin upper vermilion border; prominent philtrum; high-arched or cleft palate; short neck; redundant skin; hypoplastic nails; skeletal defects involving upper and lower limbs; gastrointestinal and genitourinary anomalies. All 3 patients were hypotonic and neurologically impaired from birth. With the exception of a trilobate left lung in one patient, the cardiorespiratory system was structurally normal. All patients died within the first 8 weeks of life of multiple complications including pneumonia and sepsis. Two SGBS kindreds, with moderate expression of the condition, have been mapped to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s).

Authors+Show Affiliations

Department of Paediatrics and Genetics, Hospital for Sick Children, Toronto, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8599356

Citation

Terespolsky, D, et al. "Infantile Lethal Variant of Simpson-Golabi-Behmel Syndrome Associated With Hydrops Fetalis." American Journal of Medical Genetics, vol. 59, no. 3, 1995, pp. 329-33.
Terespolsky D, Farrell SA, Siegel-Bartelt J, et al. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet. 1995;59(3):329-33.
Terespolsky, D., Farrell, S. A., Siegel-Bartelt, J., & Weksberg, R. (1995). Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. American Journal of Medical Genetics, 59(3), 329-33.
Terespolsky D, et al. Infantile Lethal Variant of Simpson-Golabi-Behmel Syndrome Associated With Hydrops Fetalis. Am J Med Genet. 1995 Nov 20;59(3):329-33. PubMed PMID: 8599356.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. AU - Terespolsky,D, AU - Farrell,S A, AU - Siegel-Bartelt,J, AU - Weksberg,R, PY - 1995/11/20/pubmed PY - 1995/11/20/medline PY - 1995/11/20/entrez SP - 329 EP - 33 JF - American journal of medical genetics JO - Am J Med Genet VL - 59 IS - 3 N2 - Simpson-Golabi Behmel syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al. [1975: BD:OA XI(2):18-24], a wide clinical range of cases has been reported. There is great variability in severity, ranging from a mild form associated with long-term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. In 8 reported families, affected individuals died in infancy. Here we present 4 maternally related, male cousins with a severe variant of SGBS. One of these males was aborted therapeutically at 19 weeks of gestation following the detection of multicystic kidneys on ultrasound. The 3 liveborn males were hydropic at birth with a combination of craniofacial anomalies including macrocephaly; apparently low-set, posteriorly angulated ears; hypertelorism; short, broad nose with anteverted nares; large mouth with thin upper vermilion border; prominent philtrum; high-arched or cleft palate; short neck; redundant skin; hypoplastic nails; skeletal defects involving upper and lower limbs; gastrointestinal and genitourinary anomalies. All 3 patients were hypotonic and neurologically impaired from birth. With the exception of a trilobate left lung in one patient, the cardiorespiratory system was structurally normal. All patients died within the first 8 weeks of life of multiple complications including pneumonia and sepsis. Two SGBS kindreds, with moderate expression of the condition, have been mapped to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s). SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8599356/Infantile_lethal_variant_of_Simpson_Golabi_Behmel_syndrome_associated_with_hydrops_fetalis_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=59&issue=3&spage=329 DB - PRIME DP - Unbound Medicine ER -