The importance of investigating an apparently simple Yq deletion detected prenatally.
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Abnormalities, Multiple↗
Biomedical subjects
F Halal
Publications and source records attributed to F Halal.
Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome?
We report on a boy with hyperphalangism, partial syndactyly, facial anomalies, and diffuse bronchomalacia, born to a nonconsanguineous French-Canadian couple. To our knowledge, this is a hitherto undescribed syndrome.
Abnormalities, Multiple↗
Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.
We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome.
Child↗
Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20.
We report on a 14-year-old boy with ring chromosome 20. Clinical manifestations included postnatal growth retardation, epilepsy, microcephaly, behaviour disorder, minor facial anomalies, small sella turcica, possible partial growth hormone deficiency, and mental retardation. A decreased activity of enzyme carboxypeptidase-L/protective protein (CP/PP) in cultured fibroblasts was demonstrated in our patient and a patient with a karyotype 46,XY,-14, + der(14)t(14;20)(14pter----14q32.3::20q13.1----20qter)m at. This suggests possible assignment of the CP/PP gene to the distal segment of 20q.
Adolescent↗
Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?
We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.
Adult↗
Monozygotic twins discordant for fibular aplasia.
We report on monozygotic (MZ) twins, one with the fibular aplasia developmental field defect, and the other with ectrosyndactyly of the hand. This may represent a coincidental occurrence of two sporadic events, or syndromal fibular aplasia.
Diseases in Twins↗
Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.
We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23----q27. Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple. Her phenotype is compared with that of previously reported cases of duplication 4q. An increased activity of the enzyme aspartylglucosaminidase (AGA) in cultured fibroblasts was demonstrated. This suggests possible assignment of the AGA gene to the chromosomal segment 4q23----4q27.
Aspartylglucosylaminase↗
A distinct type of hidrotic ectodermal dysplasia.
Four individuals from 2 generations of a family had a hidrotic type of ectodermal dysplasia (ED). Males and females were similarly affected. They had trichodysplasia, with absent eyebrows and eyelashes; normal teeth, onychodysplasia; normal sweating; mild retrognathia; abnormal dermatoglyphics; and mental retardation. Additional variable manifestations included irregular menses, high implanted or prominent ears, café-au-lait spot, keratosis pilaris, supernumerary nipple, and mild hearing loss. Their previously undescribed condition could be classified as an ED of 1-3 (trichoonychial) subgroup of group A according to Freire-Maia's classification and is inherited as an autosomal recessive trait.
Chromosome Aberrations↗
Generalized enchondromatosis in a boy with only platyspondyly in the father.
We report on a boy with platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of hands and feet, compatible with generalized enchondromatosis (enchondromatosis Spranger type VI). His father has only moderate platyspondyly. The latter is either coincidental or a milder, more localized expression of the disease. Father and son have consanguineous parents suggesting autosomal recessive inheritance of the trait. However, autosomal dominant inheritance with variable expressivity is also possible.
Adult↗
Distal deletion of chromosome 1q in an adult.
An adult patient with mongoloid appearance, profound retardation and autistic-like behavior was found to have a deletion of the distal bands of chromosome 1q. To our knowledge, this is the oldest patient with distal deletion 1q.
Adult↗
Ring chromosome 4 in a child with duodenal atresia.
We report on a 19-month-old girl with ring chromosome 4 and a multiple congenital anomaly syndrome. The clinical and cytogenetic findings are compared with those of previous cases in whom the breakpoints in ring chromosome 4 are known.
Abnormalities, Multiple↗
The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.
Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome.
Abnormalities, Multiple↗
A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.
Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.
Abnormalities, Multiple↗
Slowly progressive macrocephaly with hamartomas: a new syndrome?
We report on an 8 1/2-year-old boy with slowly progressive macrocephaly, psychomotor retardation, multiple subcutaneous angiolipomas, hypertelorism, exotropia, prolonged drooling, cutis marmorata, telangiectasia, congenital heart defect, broad thumbs and great toes, and muscle wasting. The syndrome is similar to the Bannayan-Zonana syndrome and seems to be inherited as an autosomal dominant trait. The father has partial manifestations of the syndrome.
Abnormalities, Multiple↗
Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.
We report on three individuals (two sibs and their father) with the Kabuki make-up syndrome. The two sibs had congenital dislocation of the hips and all three individuals had short stature and the facial characteristics of the syndrome. To our knowledge this is the first report of familial occurrence of the Kabuki make-up syndrome.
Adolescent↗
The hand-foot-genital (hand-foot-uterus) syndrome: family report and update.
Four individuals from three generations of a family had the Hand-Foot-Genital (Hand-Foot-Uterus) syndrome. Affected females had urologic abnormalities confirming that the latter are part of the syndrome.
Abnormalities, Multiple↗
Ruvalcaba-Myhre-Smith syndrome.
In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome.
Child, Preschool↗
A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies.
We report on the occurrence of a new syndrome of upper limb hypoplasia and Müllerian duct anomalies in a French Canadian family. Limb/acral anomalies varied in expression from postaxial polydactyly to ectrodactyly to severe upper limb hypoplasia with split hand. Genital anomalies varied in expression from only a vaginal septum to complete duplication of uterus and vagina in the female to a micropenis in one of two affected males. The syndrome appears to be inherited as an autosomal dominant trait.
Adolescent↗