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Biomedical subjects

F Halal

Publications and source records attributed to F Halal.

At least 37 records · Page 2Linked to original sources
PubMed1985

Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy.

Oligomenorrhea was the reason for consultation in three individuals (two sisters and one unrelated woman) with the pseudo-pseudohypoparathyroidism (PPHP) variant of Albright's hereditary osteodystrophy (AHO). All had short stature, Ullrich-Turner-like signs, acral anomalies typical of AHO/brachydactyly E, and hypogonadism. One of the three individuals also had reduced erythrocyte NS (a membrane nucleotide regulatory protein that is required for functional coupling of stimulatory hormone receptors and catalytic adenylate cyclase) activity as described in the pseudohypoparathyroidism variant of AHO. The differential diagnosis of young women with the PPHP phenotype is discussed with special reference to Ullrich-Turner syndrome, brachydactyly E, the "resistant ovary" syndrome, and acrodysostosis.

Adolescent↗
PubMed1985

Dominant inheritance of syn-camptodactyly of the second and third toes with foot and lower limb asymmetry and scoliosis.

We describe a family in whom affected persons have the following anomalies in variable combination: camptodactyly of the second and/or third toes, partial syndactyly of second and third toes, foot and lower limb asymmetry, and scoliosis. The condition seems to be an autosomal dominant trait with apparently reduced penetrance and variable expressivity.

Abnormalities, Multiple↗
PubMed1984

Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

Seven individuals from 3 generations of a French-Canadian family had various combinations of acral, renal, and ocular defects. Acral anomalies varied from mild hypoplastic distal portion of the thumbs, with limited motion at IP joint, to severe thumb hypoplasia and preaxial polydactyly. Renal anomalies varied from mild malrotation to crossed renal ectopia without fusion; other urinary tract anomalies were vesicoureteral reflux and bladder diverticula. Ocular manifestations varied from complete eye coloboma, coloboma of the optic nerve, ptosis, and Duane anomaly. The syndrome seems to be an autosomal dominant trait with high penetrance and variable expressivity. Dermatoglyphics were abnormal; in addition to a triradius t' present in all, some also had various combinations of high TRC, thenar exit of A line, and rare patterns in interdigital area IV.

Abnormalities, Multiple↗
PubMed1983

Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?

We report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term "branchio-oto-ureteral syndrome" to designate this condition.

Abnormalities, Multiple↗
PubMed1983

Intracranial aneurysms: a report of a large pedigree.

We report on the occurrence of intracranial aneurysms in several individuals of a large French-Canadian family. Recurrence risk from 22 previously reported families (each with at least two affected first degree relatives) and the present family does not allow any firm conclusion about the mode of inheritance of the trait.

Adult↗
PubMed1983

Dominantly inherited syndrome of microcephaly and cleft palate.

Two sisters and their mother had a syndrome of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild mental retardation, and abnormal dermatoglyphics. This is an evidently dominantly inherited trait, either autosomal or X-linked.

Abnormalities, Multiple↗
PubMed1982

Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, hypertelorism, and myopia.

We report the familial occurrence in a French Canadian family of peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, apparent hypertelorism, and myopia caused by a pleiotropic autosomal dominant gene with high penetrance and variable expressivity. Other probable but rarer components of the syndrome include ischemic heart disease, congenital heart disease, and maturity onset diabetes. Symptoms of peptic ulcer/hiatal hernia usually started in the second or third decade and were associated, as least in some examined individuals, with relatively increased acid secretion and abnormal dermatoglyphics.

Adolescent↗
PubMed1982

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.

We report the familial occurrence in a French Canadian family of metaphyseal dysplasia associated to short stature and previously undescribed facial and acral anomalies. Facial manifestations include beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth. Acral changes include bilateral shortness of metacarpal 5 and/or 2nd middle phalanx of fingers 2 and 5. Dermatoglyphics show low TRC, distal or absent axial triradius, absent triradius C, and radial loop on digit 4. The syndrome appears to be an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1981

Brief Clinical Report: coloboma hypospadias.

We report a five-year-old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation my represent 1) the BBB syndrome with coincidentally segregating coloboma; 2) discovery of coloboma as a new but rare component manifestation of the BBB syndrome; or 3) a new autosomal dominant pleiotropic syndrome.

Child↗
PubMed1981

Minor manifestations in preaxial polydactyly type 1 and Poland complex.

We report three unrelated patients: two (patients 1 and 3) with preaxial polydactyly type 1 (PPT1), and one (patient 2) with PPT1 and Poland complex, and previously undescribed minor manifestations in the parents. The mother of patient 1 has camptodactyly with mild ulnar deviation of the distal phalanx of left thumb. The mother of patient 2 has symmetrical minor changes of both hands: mild camptodactyly of digits 4 and 5; mild clinodactyly of right 5th digit; absent or hypoplastic DIP flexion creases of digits 2, 3, 4 and 5; and tight skin around the middle phalanx of the 4th fingers. The mother of patient 3 has mild camptodactyly of the proximal phalanx of the thumbs.

Dermatoglyphics↗
PubMed1981

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.

We diagnosed non X-linked hypophosphataemic bone disease in a 38-month-old girl. Findings included: genu varum, shortened stature, fasting hypophosphataemia (2.3-2.5 mg/100 ml; 0.74-0.81 mmol/l), diminished theoretical renal threshold for phosphate (TmP/GFR), and osteomalacia without rickets. One patient (the father) had fasting hypophosphataemia (2.3-2.7 mg/100 ml; 0.74-0.87 mmol/l) and low TmP/GFR without osteomalacia or shortened stature. Treatment of the girl with 1,25-(OH)2D3 (1 microgram a day) raised the level of serum phosphorus, improved tubular reabsorption of phosphate, and healed the bone deformity; this combination of responses is not present in X-linked hypophosphataemia. There was no correction of hypophosphataemia or TmP/GFR with 1,25-(OH)2D3 treatment (1-3 micrograms a day) in the father.

Adult↗