We report on another family with the so-called "gigantism-dysplasia syndrome", an X-linked condition characterized by pre- and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.

Abnormalities, Multiple↗

PubMedDate not supplied

Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.

Here we report a follow-up on a boy born in 1983 into a family with presumed Simpson-Golabi-Behmel syndrome and first reported as patient 3 by Opitz [1984] under the designation "Golabi-Rosen" syndrome. The patient died at 25 months without having attained any measure of psychomotor development or maturation and with a neurologic picture of irritability, increased muscle tone, seizures, deafness and possible cortical blindness. He had a striking facial appearance similar to that of severely affected individuals in the family reported by Golabi and Rosen [1984], with mild hepatosplenomegaly, unusual skin, normal growth, decelerating OFC, and on autopsy a spongiform degeneration of brain stem and cerebrum. Results of all biochemical studies, including those pertaining to GM3 gangliosidosis, were normal.

Abnormalities, Multiple↗

PubMedDate not supplied

FG syndrome update 1988: note of 5 new patients and bibliography.

At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. It is an X-linked, incompletely recessive, complexly pleiotropic syndrome with considerably variable expressivity. Though a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome, severe malformations are uncommon and involve mostly the anus (60%) and non-colonic GI defects (33%), hypospadias (25%), cleft palate (6%), rarely a congenital heart defect. The complex CNS dysfunctions of congenital hypotonia and all of its sequelae, MR, and occasional seizures, must be attributed to a developmental CNS defect which is rarely demonstrated at pre-mortem, and which is known to involve agenesis of the corpus callosum in some 25% of appropriately studied patients (mostly propositi). Thus, the diagnosis is largely made on a specific constellation of minor anomalies and mild malformations in a hypotonic boy with severe constipation and a very characteristic facial appearance and behavioral phenotype. In about 1/3 of cases, carrier manifestations may be detected physically. New hemizygote manifestations seen in this review of 5 new patients include abnormal eruption of teeth, diastasis between upper central incisors, apparent gynecomastia, cleft lip, and nasolacrimal and helicine fistulae. Only a half hundred or so FG syndrome patients are known, but we suspect the syndrome is much more common than realized, and because of the unfortunate recurrence risk potential, deserves careful consideration in every appropriate case. RFLP mapping studies are urged in order to aid diagnosis of "mild" cases, and prenatal and carrier detection.

Abnormalities, Multiple↗

PubMedDate not supplied

Bibliography on X-linked mental retardation, the fragile X, and related subjects V (1991).

Explore the source record for details and available documents.

Female↗

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"Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome.

The Wiedemann-Beckwith syndrome (WBS) was first described in 1963 as a group of anomalies involving primarily macrosomia, macroglossia, and omphalocele. Histologic studies of WBS show nesidioblastosis of the pancreas, adrenocortical cytomegaly, and persistent metanephric blastema of the kidney. Multiple lines of evidence indicate that the human 11p15.5 region is the locus of abnormality in WBS. Insulin-like growth factor II (IGF-2) frequently has been considered a candidate gene, and expression of IGF-2 is known to be significantly delayed in fetal skeletal muscle of double-muscle (DM) cattle. Other candidate genes recently have been proposed for WBS. A number of recessive alleles in the bovine myostatin gene (GDF8, mapped to bovine chromosome 2 and apparently orthologous to the human 2q22 region) have been shown to be responsible for DM. Recently the first human case of deficient GDF8 function has been reported, confirming the importance of this gene. Bovine IGF-2 has been sequenced and localized to chromosome 25. The primary purpose of this study was to compare and contrast histologic findings in DM and WBS. Immunohistochemical staining confirms changes similar to nesidioblastosis in the pancreas. Other dysplastic changes of a cystic nature are seen in the adrenal. The renal histology of DM fetuses did not appear significantly different than controls.

Adrenal Cortex↗

PubMedDate not supplied

Familial Kallmann syndrome with unilateral renal aplasia.

On the basis of studies in two brothers and their double first cousin, the Kallmann syndrome (KS) is discussed as an X-linked syndrome of anosmic hypogonadotropic hypogonadism. The anosmia is thought to represent agenesis or hypoplasia of the olfactory lobes, the mildest form of the alobar holoprosencephaly developmental field defect; this is supported by the finding of hypotelorism in two of the patients and their mother. The endocrine defect is thought to represent a hypothalamic abnormality of the luteinizing hormone releasing hormone; borderline normal intelligence may represent another pleio-tropic CNS manifestation of the KS gene. All three affected males had unilateral renal aplasia, associated in one with ipsilateral absence of the testis. The presence of at least two developmental field defects (involving the CNS and urogenital system) makes it likely that the KS is a true multiple congenital anomaly syndrome; this is supported by the finding of additional, mostly minor, anomalies reported by other investigators. Heterozygous females may also show manifestations of anosmia, hypogonadism, possibly even internal genital malformation; however, genetic heterogeneity of anosmic hypogonadism is possible, and for the time being it is probably better to designate sporadic female cases of anosmic hypogonadism as examples of the olfacto-genital syndrome of DeMorsier. Linkage studies are urgently needed to clear up the question of genetic heterogeneity and to help develop empiric recurrence risk figures in anosmic hypogonadism.

Adult↗

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The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome.

A brief overview of the clinicopathologic findings in the cerebro-hepato-renal syndrome of Zellweger (ZS) is presented. In order to understand more clearly the many diverse features of the ZS condition, a guideline is suggested for evaluation of a ZS infant in terms of physical features, family history, clinical pathophysiologic parameters, biopsy specimens, and postmortem procedures. The references provide rationale pertinent to the subject of discussion and/or furnish comments upon technical aspects for performance of analytical procedures.

Brain Diseases↗