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Biomedical subjects

M Golabi

Publications and source records attributed to M Golabi.

At least 37 records · Page 2Linked to original sources
PubMed1993

Mental retardation locus in Xp21 chromosome microdeletion.

Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The clinical phenotypes we studied in this chromosome region include: Xpter - Aland Island eye disease (AIED) -adrenal hypoplasia (AH) -glycerol kinase (GKD) -Duchenne muscular dystrophy (DMD) -retinitis pigmentosa (RP) -ornithine transcarbamylase (OTC) -centromere. In a compilation of 18 individuals in 14 families with the AH, GKD, and DMD loci deleted, 17 were male and all were developmentally delayed. In contrast, we report mentally retarded female carriers in two Xp21 deletion syndrome families with DMD, GKD, and AH in affected males. In the first family with normal karyotypes, a submicroscopic deletion was associated with DMD in the retarded male and with retardation in carrier females. In the second family an X chromosome with a cytogenetically deleted Xp21 distal to the OTC and RP genes segregated in the affected male and retarded female carriers. DNA analysis at the DMD locus verified the cytogenetic findings. This report of mental retardation in otherwise asymptomatic female carriers of Xp21 deletion classifies one form of mental retardation in females.

Adrenal Glands↗
PubMed1993

Facial features of infants exposed prenatally to cocaine.

Thirty two infants referred for in-patient genetics evaluation at the University of California at San Francisco, 1987-1992, were found to have a history of maternal cocaine use. Genetics reports and medical records were reviewed on all these infants to identify features distinctive for cocaine exposure. Among these 32 cases, 14 infants were exposed only to cocaine; 18 were exposed to alcohol and cocaine. The infants evaluated displayed a distinctive phenotype, consisting of neurologic irritability, large fontanels, prominent glabella, marked periorbital and eyelid edema, low nasal bridge with transverse crease, short nose, lateral soft tissue nasal buildup, and small toenails. Features consistent with the fetal alcohol syndrome appeared distinct and coexistent with the other described facial findings. Other severe abnormalities included cleft lip/palate, atypical facial cleft, abnormal BSER, intraventricular hemorrhages, arthrogryposes, and genitourinary abnormalities. Forty percent of the infants were born prematurely; 28% were small for gestational age; 43% showed head circumference values less than the 10th percentile. We conclude that these findings may be distinctive for a diagnosis of fetal cocaine syndrome; such findings should be further established by a future blinded prospective study of mothers and neonates.

Alcoholism↗
PubMed1992

Beare-Stevenson cutis gyrata syndrome.

Beare-Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniofacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation.

Abnormalities, Multiple↗
PubMed1992

Pallister-Hall syndrome associated with an unbalanced chromosome translocation.

We report 3 cases of Pallister-Hall syndrome involving hypothalamic hamartoblastoma, hypopituitarism, cranial, and limb abnormalities. The first 2 cases represent the first apparent sibs reported with this syndrome. Patient 1 represents the first known patient with this syndrome with an abnormal karyotype.

Abnormalities, Multiple↗
PubMed1992

Abnormalities of the visual system in infants exposed to cocaine.

The authors describe 13 cocaine-exposed infants with optic nerve abnormalities, delayed visual maturation, and prolonged eyelid edema. Prolonged and potentially vision-threatening eyelid edema is a new clinical entity. The pharmacology of cocaine, its easy access to fetal circulation, and its neurotropic characteristics can be used to explain optic nerve abnormalities and delayed visual maturation. In infants with any of these eye abnormalities, a careful investigation for cocaine abuse is advisable.

Abnormalities, Drug-Induced↗
PubMed1990

Histologic evaluation of the coronal sutures in trigonocephaly.

Thirteen cases of trigonocephaly, seven isolated and six syndromic cases, were evaluated by preoperative neurologic and genetic evaluation and by radiographic evaluation (CT scans). All 13 were treated in an identical surgical manner. Specimens from the coronal sutures were obtained during surgery for histologic evaluation. All of the isolated cases, except one, showed normal coronal sutures and had a good-to-excellent result from surgery. All of the syndromic or secondary cases showed an abnormality of the coronal sutures. Four of the six cases had bad results; two required subsequent surgical procedures. It is our opinion that if a coronal suture abnormality is noted on preoperative CT scans or if preoperative evaluation demonstrates an associated syndrome or CNS malformation, the results from surgery must be guarded.

Cranial Sutures↗
PubMed1989

Expanded phenotype and ethnicity in Setleis syndrome.

Setleis syndrome, an autosomal recessive disorder characterized by "coarse" face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican children. We report on 3 unrelated children (one mentally retarded) with Setleis syndrome who are not of Puerto Rican descent. Two of our patients had imperforate anus, which has not previously been reported. The evolution of the phenotype over time is illustrated.

Abnormalities, Multiple↗
PubMed1988

Sperm chromosome analysis to assess potential germ cell mosaicism.

Human sperm chromosome complements were examined to assess the possibility that the conceptions of two children with the same chromosomal defect, del(13)(q22q32), from chromosomally normal parents were the result of a paternal germ cell mosaicism. Analysis of 216 complements, both by quinacrine banding and by measuring the relative length of chromosome 13, showed no unusual subpopulation of 13s; this decreased the likelihood of a paternal origin of the deletion. Sperm chromosomal analysis is a useful adjunct to available techniques in clinical genetics. When counseling cases involving either structural or numerical de novo chromosome abnormality, it is of importance to discuss the possibility of germ cell line mosaicism as well as to offer prenatal diagnosis for subsequent pregnancies.

Abnormalities, Multiple↗
PubMed1988

Nonimmune hydrops fetalis may be associated with an elevated delta OD450 in the amniotic fluid.

Nonimmune hydrops fetalis may be associated with an elevated amniotic fluid delta OD450. Cases of I-cell disease (mucolipidosis II), lethal multiple pterygium syndrome, and alpha-thalassemia are presented, each associated with nonimmune hydrops fetalis and an elevated delta OD450. An elevated delta OD450 does not always indicate isoimmunization, and may be due to increased red blood cell turnover for a variety of reasons associated with nonimmune hydrops fetalis.

Abnormalities, Multiple↗
PubMed1987

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

In 1964, Smith et al described a syndrome of microcephaly, growth and mental retardation, unusual facial appearance, syndactyly of toes 2 and 3, and genital abnormalities. Major structural malformations and early death have been uncommon in the many subsequent literature reports. We report on 19 infants with a phenotype we propose to call Smith-Lemli-Opitz syndrome (SLOS)-Type II, in which major structural abnormalities, male pseudohermaphroditism, and early lethality are common. Of these 19 patients, 18 had postaxial hexadactyly, 16 had congenital heart defect, 13 had cleft palate, and 10 had cataracts. Unusual findings seen in these patients at autopsy included Hirschsprung "disease" in five patients, unilobated lungs in six, large adrenals in four, and pancreatic islet cell hyperplasia in three. Comparison of our cases to 19 similar literature cases suggests the existence of a distinct phenotype that may be separate from SLOS as originally described. It is also inherited as an autosomal recessive, as documented by occurrence in one pair of sibs in this study and recurrence in three reported families.

Abnormalities, Multiple↗
PubMed1987

Thanatophoric dysplasia and cloverleaf skull.

Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. It is concluded that there are two types of TD: type 1, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteristics differentiate the two types. Only a very few type 1 cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.

Female↗
PubMed1987

Craniosynostosis and hydrocephalus.

Ten cases of craniosynostosis associated with hydrocephalus were found in a retrospective review of 250 cases of children with craniosynostosis. Four children had Pfeiffer's syndrome, 3 had Crouzon's syndrome, 2 had kleeblattschädel with multiple anomalies and therefore could not be classified into a definite syndrome, and 1 had isolated sagittal synostosis. Of these 10 children, 5 had kleeblattschädel, two with Crouzon's syndrome, one with Pfeiffer's syndrome, and 2 with multiple anomalies. In all patients, hydrocephalus was controlled by a shunting procedure. Possible causes of hydrocephalus in association with craniosynostosis are discussed.

Adolescent↗
PubMed1986

Upper airway obstruction in infants with fetal alcohol syndrome.

Fetal alcohol syndrome is a well-known entity, but its association with upper airway anomalies has not been established. We describe three patients, all of whom had fetal alcohol syndrome and upper airway obstruction. Recognition of this problem is important, as it may help to prevent serious complications such as obstructive apnea, sudden infant death syndrome, or pulmonary hypertension in these already compromised infants.

Abnormalities, Multiple↗
PubMed1986

Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism.

The clinical significance of trisomy 20 mosaicism in amniotic fluid cultures has remained unclear so far. We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells. The child had generalized dysmorphic features, including facial dysmorphy resembling those of a child with Williams syndrome. The boy also had hypotonia and language delay. Although most of the published cases do not mention any abnormalities in children born after prenatal diagnosis of trisomy 20 mosaicism, the distinct cranio-facial features and the similarities to previous reports of partial or complete chromosome 20 mosaicism raises the possibility that a recognizable pattern of malformation might be associated with the prenatally diagnosable condition in some cases.

Abnormalities, Multiple↗