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Biomedical subjects

M G Bialer

Publications and source records attributed to M G Bialer.

25 records · Page 2Linked to original sources
PubMed1989

Apparent Ruvalcaba syndrome with genitourinary abnormalities.

The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22-year-old woman with severe growth and mental retardation and numerous manifestations characteristic of the Ruvalcaba syndrome. In addition, she has several anomalies not previously described in the Ruvalcaba syndrome, including upslanting palpebral fissures, torus palatinus, hiatal hernia with gastroesophageal reflux, recurrent respiratory infections, pectus excavatum, equinovarous deformity, hypotonia, unilateral renal hypoplasia, an accessory ovary, and atretic fallopian tube. Review of published reports of Ruvalcaba syndrome confirms variability of the clinical and radiographic changes. Findings present in at least 50% of reported patients include mental retardation, short stature, pubertal delay, an abnormal nose (usually beaked) with hypoplastic nasal alae, microstomia with narrow maxilla, thin upper lip vermilion, broad hips, small hands, joint limitation, short fingers and toes, and vertebral abnormalities. Because 5 of the reported patients had renal abnormalities, a renal ultrasound or contrast study is indicated in the evaluation of these patients. Additional reports, particular from multiplex families, will be important to better characterize this syndrome.

Abnormalities, Multiple↗
PubMed1988

Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.

The Proteus syndrome (PS) and the Bannayan-Zonana syndrome (BZS) both have multiple hamartomata as prominent features. Hemihypertrophy, macrodactyly, exostoses, skin lesions, scoliosis, and sporadic occurrence are seen in PS, whereas patients with BZS have macrocephaly and related craniofacial findings. BZS has been observed in families as an autosomal dominant trait. Although the two syndromes can be distinguished in most patients, there are features in common to both that may pose a diagnostic dilemma in an isolated case. We report the case of a 3-year-old girl with macrocephaly, macrodactyly, and superficial and intra-abdominal hamartomata who illustrates the problem of differentiating between PS and BZS. We compare this patient and another recently reported patient with other published cases of PS and BZS. Patients with PS, in general, show more extensive systemic involvement, including skeletal and cutaneous manifestations. Macrocephaly, seen in all reported patients with BZS, is also found in 14% of patients with PS. Overlap among syndromes which include hamartomata as prominent features suggests that they might be etiologically or pathogenetically related. The present case also illustrates the usefulness of imaging techniques in the diagnosis of mixed mesodermal hamartomata.

Child, Preschool↗
PubMed1987

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.

We report on a 46,XY newborn infant with Smith-Lemli-Opitz (SLO) syndrome with female external genitalia, intraabdominal testes with epididymides and deferent ducts and a normally shaped uterus and vagina. Polydactyly, cleft palate, and several internal organ malformations were also present, and the patient died shortly after birth. Data on six reported male infants with SLO syndrome and female external genitalia suggest a correlation between degree of genital involvement and overall degree of severity. Scoring systems to quantify overall degree of severity (SLO score) and degree of genital involvement in males (genital score) were devised and applied to 122 reported cases from the literature. Statistical analyses showed a unimodal distribution of the SLO severity scores, and positive correlations between the SLO score and the genital score in males, the presence of polydactyly, and the presence of cleft palate. In 19 multiplex families the affected sibs were generally similar in their SLO scores. The above analyses suggest that the wide phenotypic variability in the SLO syndrome is determined by variable expressivity of the same entity as opposed to genetic heterogeneity. The observed phenotypic correlations naturally determine that males with complete feminization are among the more severe patients and tend to have polydactyly and cleft palate.

Abnormalities, Multiple↗
PubMed1982

Wolman's disease: report of a case, with multiple studies.

We studied a case of Wolman's disease that is apparently the first to be reported in a black infant. Culture of the skin fibroblasts showed massive accumulation of neutral lipids, accompanied by decreased esterolytic activity as measured by fluorometric assay. Electrophoresis showed decreased activity of an esterase allotype, with low electrophoretic mobility.

Adrenal Cortex↗
PubMedDate not supplied

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

We restudied a family with X-linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop. Stature, OFC, testicular volume, high resolution chromosome and fragile X studies, and plasma amino acids were all normal. Their manifestations closely resemble those of a large family with XLMR originally reported by Allan et al. [1944] and restudied by Stevenson et al. [1990]. This condition has been termed the Allan-Herndon-Dudley syndrome (AHDS). As AHDS has been mapped to Xq21, mapping studies were undertaken to determine if this family maps to the same location. These studies demonstrate tight linkage to Xq21, with a maximum lod score of 2.88 obtained with probe pX65H7 (DXS72). Multipoint analysis located the mutant gene quite close to pX65H7 (multipoint Z = 4.14), slightly more proximal in Xq21 than was suggested by the data from the original AHDS family. It appears likely that this family is the second reported family with AHDS.

Adult↗