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Biomedical subjects

F Halal

Publications and source records attributed to F Halal.

50 records · Page 3Linked to original sources
PubMed1980

Acro-renal-mandibular syndrome.

We report two female sibs, with severe split-hand/split-foot malformation associated with renal and genital anomalies. The patients also have severe mandibular hypoplasia and some other, minor anomalies. The relationship to the acro-renal "syndrome" in particular and to other phenotypes with similar malformations in general is discussed. Because of consanguinity in the parents, autosomal recessive inheritance seems likely. However, the presence of a septate uterus in the mother and a double collecting system in the only living sib could also suggest possible dominant inheritance with variable expressivity.

Consanguinity↗
PubMed1980

Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

Nineteen of 421 white children in Montreal schools for the deaf had preauricular pits. The branchio-oto-renal (BOR syndrome was identified in four of the nine families who agreed to family investigation, including audiograms and intravenous pyelograms (IVPs) and may have been present in several others. The penetrance of this autosomal dominant syndrome appears to be high. It is estimated that severe renal dysplasia occurs in about 6% of heterozygotes. The presence of a preauricular pit at birth suggests that the child has at least one chance in 200 of severe hearing loss, and this warrants a careful family history, as well as alertness for any signs of hearing impairment. Offspring of affected individuals are eligible for parental diagnosis of renal dysplasia.

Adolescent↗
PubMed1979

The hand profile on de Lange syndrome: diagnostic criteria.

The hand pattern profiles of 18 previously published and 10 new cases of de Lange syndrome were compared to those of cases referred as suspects, but judged clinically and by numerical taxonomic methods not to have de Lange syndrome (non-de Lange). Based on a Poznanski metacarpophalangeal profile of the 2 groups of patients, a simple scoring system using 11 measurements was devised using the 16 most marked differences within and between metacarpals and phalanges. Of the metacarpals, the first is shorter than the second, third, fourth, or fifth; and the second and fifth are shorter than the third or fourth. Of the middle phalanges, the third and fourth are shorter than the respective metacarpal and than the second and fifth middle phalanx. Of the distal phalanges, the fifth is shorter than the second. The mean Z score for these 11 measurements is further below normal in the de Lange group than in the non-de Lange group. All 11 non-de Lange patients had a score less than 17, and all 28 de Lange patients had a score of 18 or more.

Adolescent↗
PubMed1978

Dominant inheritance of Scheuermann's juvenile kyphosis.

Familial occurrence of Scheuermann's juvenile kyphosis is well known, but no specific mode of inheritance has been recognized. We describe five families in which the disease seems to follow and autosomal dominant pattern of inheritance.

Adolescent↗
PubMed1978

Congenital vesicular eruption caused by Haemophilus influenzae type b.

We report a case of perinatal infection that we believe is the first documented report of a congenital vesicular eruption due to Haemophilus influenzae type b and the second report of puerperal sepsis with this organism. A vesicular eruption was noted at birth on an infant delivered at 37 weeks following 34 hours' premature rupture of membranes. Gram-negative rods were seen on Gram stain of vesicular fluid, and H. influenzae type b grew on cultures of vesicular fluid. The mother sustained postpartum septicemia with the same organism. Amnionitis and funistis were demonstrated histologically. Results of all viral studies were negative. Infant and mother did well with antibiotic therapy.

Adult↗
PubMed1977

Severe disseminated lung disease and bronchiectasis probably due to Mycoplasma pneumoniae.

Severe disseminated lung disease causing acute respiratory failure developed in a previously healthy 6 1/2-year-old boy. Mycoplasma pneumoniae was implicated and a complement-fixing antibody titre of 1:1024 against this organism was detected. At autopsy bronchiectasis was found, affecting chiefly the right middle and lower lobes. The unusual radiologic and pathologic findings are discussed.

Antibodies, Bacterial↗