Biomedical subjects

M Golabi

Publications and source records attributed to M Golabi.

42 records · Page 3Linked to original sources

PubMed1985

Emery-Dreifuss muscular dystrophy with autosomal dominant transmission.

A woman with early-onset, slowly progressive, humeroperoneal muscle weakness had marked restriction of neck flexion with contracture at the elbows. She developed exertional dyspnea at age 25, atrial fibrillation with slow ventricular rate was discovered, and a cardiac pacemaker was implanted. Her father had a similar disorder. There is at least one other report of autosomal dominant transmission of this clinical picture, which had previously only been reported as Emery-Dreifuss muscular dystrophy with X-linked recessive inheritance. Thus, more than one mode of inheritance is possible for this unusual and distinctive form of muscular dystrophy.

Adult↗

PubMed1984

Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome.

A male infant was evaluated with macrocephaly, scaphocephaly , a high forehead, a parietal foramen, a midline posterior occipital dermoid, and sloped shoulders. A skeletal survey also showed distal hypoplasia of the clavicles with bilateral loss of the acromion. Similar features were evident in his father, grandfather, and two paternal great-aunts. To our knowledge, this is the second report of this syndrome, which may be designated as parietal foramina-cleidocranial dysplasia. Our three-generation family and male-to-male transmission clearly established an autosomal dominant mode of inheritance for this syndrome.

Adult↗

PubMed1984

A new X-linked mental retardation-overgrowth syndrome.

We report on a family with 4 affected males in 3 generations with a previously unreported X-linked mental retardation/multiple congenital anomaly (XLMR/MCA) syndrome. The propositus was a 7-year-old Latin American moderately retarded male with: prenatal and postnatal overgrowth; short, broad upturned nose; large mouth; midline groove of tongue, lower alveolar ridge and lower lip; submucous cleft palate; supernumerary nipples; 13 ribs; Meckel's diverticulum; intestinal malrotation; coccygeal skin tag and bony appendage; hypoplastic index fingernails; postaxial polydactyly of the right hand, bilateral syndactyly of 2nd and 3rd fingers; and tibial clinodactyly of 2nd toes. His sister's son, a premature infant who died at 4 months, had nearly identical manifestations. The propositus and his nephew had normal chromosomes. A brother and son of the sister of the mother of the propositus were similarly affected and both died in the newborn period. The mother of the propositus had a large mouth, coccygeal skin tag and bony appendage, and hypoplastic index fingernails. This distinct mental retardation/multiple congenital anomaly syndrome is added to the growing list of presently known X-linked MCA/MR syndromes.

Abnormalities, Multiple↗

PubMed1984

A new X-linked multiple congenital anomalies/mental retardation syndrome.

We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time.

Abnormalities, Multiple↗

PubMed1977

Hypo-hyperparathyroidism: evidence for a defective parathyroid hormone.

Biochemical evidence for hypoparathyroidism and roentgenographic evidence for hyperparathyroidism were present in a 7-year-old girl with seizures and tetany. She was hypocalcemic (4.7 mg/dl), hyperphosphatemic (11 mg/dl), and normomagnesemic, with elevated parathyroid hormone level (2,603 pg/dl and 3,693 pg/dl in immunoassays utilizing two different antisera). Somatic features of pseudohypoparathyroidism were absent. Increased serum alkaline phosphatase activity (335 IU/liter) with evidence of subperiosteal bone resorption suggested parathyroid hormone activity on bone. Intramuscular administration of parathyroid extract caused a rise in serum calcium level (9.6 mg/dl) and a fall in serum phosphorus level (7.9 mg/dl). The serum calcium, phosphorus, and alkaline phosphatase activity became normal during vitamin D therapy. Parathyroid hormone values and bone roentgenograms became normal. With serum calcium and phosphorus levels normal, ethylenediaminetetraacetic acid infusion was followed by an increase in plasma parathyroid hormone level but not in urinary cyclic adenosine monophosphate (AMP) or phosphaturia; in contrast, parathyroid extract induced cyclic AMP excretion and phosphaturia. These results suggest that endogenous parathyroid hormone in this patient affects bone resorption but not renal handling of phosphate. We infer that this represents a defective endogenous parathyroid hormone.

Bone and Bones↗

PubMedDate not supplied

Pediatric neurosurgical implications of the amniotic band disruption complex. Case reports and review of the literature.

Defects caused by the amniotic band disruption complex (ABDC) may vary from simple malformations caused by digital constriction to major scalp, craniofacial, and visceral malformations. ABDC may cause 7-14% of stillbirths. The etiology is unclear, but the most commonly accepted mechanism involves rupture of the amnion followed by fetal malformation, deformation, and compression. This mechanism does not adequately explain all anomalies such as hydrocephalus and holoprosencephaly that are seen in the ABDC. The use of prenatal ultrasound has allowed the diagnosis of the ABDC in utero. Since 1980, four children with the ABDC who required neurosurgical intervention were seen at the University of California, San Francisco; the presentation and subsequent surgical treatment of 2 of these children are discussed. A combined craniofacial team approach to the management of these children can maximize reconstructive and neurologic outcome.

Abnormalities, Multiple↗