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PubMed1984

Trigonocephaly: a new familial syndrome.

Trigonocephaly was found in six relatives through three generations of one family. The propositus was ascertained at birth because of omphalocele. In addition to trigonocephaly, he had minor ear, vertebral, and genital abnormalities. His father had mild microcephaly, and both had minor eye abnormalities. None of the other four affected individuals had any other malformations. In this family, trigonocephaly is an autosomal dominant trait. The ratio of affected males to affected females was 5 to 1, and although the paucity of affected females is not statistically significant, we speculate that it may reflect variable expressivity or sex limitation of the trait. We conclude that the condition in this family represents a unique syndrome in which trigonocephaly is not associated with functional brain abnormalities and where craniosynostosis is limited to the metopic region.

Adult↗
PubMed1984

Tetraploidy: a report of three live-born infants.

We present three live-born infants with tetraploidy and compare them with two previously reported live-born infants with the same genetic defect. Common anomalies noted included microcephaly; a prominent, narrow forehead; microphthalmia/anophthalmia; cleft palate; orthopedic anomalies; genital ambiguity; and abnormalities of the central nervous system, including pituitary hypoplasia. Together these constitute a rather characteristic phenotype. An error in cytoplasmic cleavage is theorized to be a mechanism for the chromosome anomaly and is supported by the presence of parental polymorphisms in one of our cases; however, the presence of a small percentage of tetraploid cells in the leukocytes and skin fibroblasts of this patient's mother does not exclude maternal mosaicism as the basis for polyploidy in certain instances.

Abnormalities, Multiple↗
PubMed1985

Deletions of the long arm of chromosome 6: two new cases and review of the literature.

Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomies of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low-set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.

Abnormalities, Multiple↗
PubMed1985

Duplication 5q(5q22----5q33): from an intrachromosomal insertion.

We report on an infant with an as yet undescribed partial duplication 5q(q22----5q33). He had a number of the already recorded manifestations of partial trisomy 5q, namely microcephaly, growth retardation, brachydactyly, long flat philtrum, thin upper lip vermilion and downturned angles of mouth and apparently low set ears. He survived only 6 months. He inherited his duplication from a maternal intrachromosomal insertion; thus he represents a pure dup(5)(q22----5q33).

Abnormalities, Multiple↗
PubMed1985

The phenotypic and cytogenetic spectrum of partial trisomy 9.

A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, and heart defects are more common with trisomic segments extending through 9q22-9q32. A graphic method illustrates this progression in the partial trisomy 9 malformation spectrum as the triplicated chromosome region extends from bands 9p21 to 9q32. More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability.

Abnormalities, Multiple↗
PubMed1985

Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.

The clinical manifestations and cytogenetic changes of a patient with 46,XY,del(8)(p21.1) are compared with those of nine other patients with a similar deficiency of chromosome 8. Patients with this chromosome anomaly have a syndrome of postnatal growth retardation, microcephaly, mental retardation, epicanthal folds, posteriorly angulated and malformed ears, short neck, relatively increased internipple distance, and congenital heart defect. A short and broad nose, a wide and flat nasal bridge, and a small jaw are observed in young patients but tend to become less apparent with increasing age. In most instances, the syndrome has been associated with a de novo chromosome abnormality. Levels of glutathione reductase in our patient were normal-a finding consistent with localization of the gene coding for this enzyme to the proximal part of band 8p21.1 if gene dosage studies are reliable.

Abnormalities, Multiple↗
PubMed1985

A family with the Saethre-Chotzen syndrome.

Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the distal segments of the limbs. Several forms of ACS have been described. ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities. We describe an Italian family with ACS III in which two sibs are clearly affected; the mother and the maternal grandmother show some features of the syndrome.

Acrocephalosyndactylia↗
PubMed1985

Deletion of the distal long arm of chromosome 1: a definable syndrome.

Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of 1q. Characteristic manifestations include round face with prominent "cupid's bow" and downturned corners of the mouth, thin vermilion borders of lips, long upper lip with smooth philtrum, short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac, genital, and other anomalies, moderate to severe mental retardation, and growth retardation. The deletion includes 1q42 or 1q43----qter and was a de novo defect in nine of 15 cases.

Abnormalities, Multiple↗
PubMed1985

Phenotypic variation in the del(12p) syndrome.

Previous reports suggested the existence of a del(12p) syndrome. Phenotypic abnormalities associated with del(12p) appear to be mental retardation, microcephaly, and micrognathia. The patient with del(12p) reported here was normocephalic and large for gestational age. She probably had sclerocornea, a finding not previously associated with del(12p). Phenotypic variation in del(12p) syndrome is probably caused by differences in the size of the deleted segment and/or the presence or absence of mutant genes on the homologous 12p segment.

Abnormalities, Multiple↗
PubMed1986

Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].

A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery.

Abnormalities, Multiple↗
PubMed1986

SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.

Two middle age sisters had most manifestations of the SC phocomelia syndrome including postnatal growth retardation, symmetric limb deficiencies with radial aplasia and absent thumbs, facial anomalies with microcephaly, microphthalmia, hypoplastic nasal alae, and borderline to mild mental retardation. Unusual findings included congenital paralysis of some cranial nerves in both patients and malignant melanoma in the proposita. Cultured lymphocytes from both patients, and skin fibroblasts, Epstein Barr virus-transformed lymphocytes, and tumor cells from the proposita demonstrated premature separation of centromeric heterochromatin (PCS) of many chromosomes, a finding noted previously in the SC phocomelia syndrome and the similar but more severe Roberts syndrome. Extensive overlap of the phenotypes of the sisters and 15 other patients with either syndrome and PCS confirms that these are either allelic conditions or the same disease--designated Roberts-SC phocomelia syndrome. The role of PCS in the syndrome(s) remains uncertain since some patients with the characteristic clinical phenotypes are reported to lack it.

Adult↗
PubMed1986

Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase.

A 14-year-old severely retarded male with deletion of chromosomal band 7 cen----q112 is described. Clinical features include short stature, microcephaly, unusual facies with narrow forehead, short nose, malar hypoplasia, protruding alveolar ridges and incisors, receding chin, relatively long philtrum, and large ears. In addition, he had bilateral inguinal herniae cryptorchidism with hypogonadism, pulmonic stenosis, and spastic quadriplegia. Normal activity of beta-glucuronidase was found in the patient's leukocytes. This finding suggests that the gene is not in the deleted region, narrowing the smallest region of overlap to 7q112----q22.

Abnormalities, Multiple↗
PubMed1986

Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).

We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46,XX,del(2)(q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low-set ears, and hand and foot abnormalities.

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

Megalocornea and mental retardation syndrome: two new cases.

We report on 2 patients with the Neuhäuser megalocornea-mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 minimal diagnostic criteria. Short stature, seizures, neurological symptoms, microcephaly or macrocephaly, and minor anomalies are all additional nonobligatory manifestations. The small number of published cases may be due to the fact that the association of these two signs has often escaped attention until now.

Child↗
PubMed1987

The risk of having a second retarded child.

We have studied segregation ratios in 282 Israeli families with normal, nonconsanguineous parents and retarded offspring without specific etiologic diagnosis. Severity of retardation and nature of medical history significantly affected recurrence risk, while sex of propositus and sibs and presence or absence of epilepsy, cerebral palsy, microcephaly, and short stature did not. Segregation rations were 0.095 in cases of severe retardation with normal medical history, 0.216 for mild retardation with normal medical history, 0.230 in cases of all retardation with maternal reproductive inefficiency, and 0.110 for all retardation with other reported prenatal, perinatal, or infantile complications. Estimated recurrence risks in most simplex families dropped sharply with each additional normal child. The recurrence risks are higher than some previously published estimates. Different ascertainment criteria may be responsible for this variation. The criteria used here were compatible with a 3.2% population prevalence of mental retardation with a 0.223 segregation ratio in multiplex sibships. It is recommended that future studies of recurrence risks include similar data permitting evaluation of sensitivity of ascertainment criteria.

Birth Order↗
PubMed1987

Amniotic band sequence and its neurocutaneous manifestations.

Six new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months, respectively. Patients 5 and 6 had only limb defects. Craniofacial and neurologic manifestations of our longer-survival patients with severe craniofacial anomalies were microcephaly, encephalocele, micro- or anophthalmia, mental retardation, hydrocephaly, seizures, EEG abnormalities, impaired body temperature control, impaired vision, hypertonia, and other psychomotor deficits. Characteristic cutaneous manifestations seen in our patients were clefting, schisis, fibrous strings, ring constriction, lymphedema. pseudosyndactyly, and intrauterine amputation. Histologic examination of the amniotic bands attaching to the skin showed autolyzed amnion in patient 2, erosion of the band into upper dermis in patient 1, and fibrosis underlying the constricted areas in patient 5. Prenatal diagnosis by ultrasonography is possible in patients with severe craniofacial defects (patient 2). A brief review of the literature is offered.

Abnormalities, Multiple↗