Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.

We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. She had microcephaly, prominent, posteriorly rotated ears, short palpebral fissures with an upward slant, a wide nasal bridge, a thin upper lip, and a short neck. In addition, she had complex congenital heart disease. Although there has been delay in growth and development, she has shown progress in both areas.

Child with Sotos phenotype and a 5:15 translocation.

We report on a 4-year-old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene.

Hydrocephalus in an infant with trisomy 22.

We present an infant with true trisomy 22. Mosaicism is ruled out by the finding of a 47,XX, +22 karyotype in all cells analysed originating from two embryonic germ layers. The physical findings are consistent with the previously noted features including developmental delay, ear abnormalities, micrognathia, clefting, and congenital heart disease. The patient is the first described with macrocephaly and hydrocephalus and the second with holoprosencephaly.

Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.

We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50% or more of affected infants; three points for features reported to occur in between 10% and 50% of affected individuals; and one point for features known to occur in less than 10% of infants with the disorder. Using the scoring system, we evaluated two cohorts of patients: those in whom a diagnosis of trisomy 18 was previously established (retrospective group) and those in whom the diagnosis was suspected but not yet proved (prospective group). The average score in the retrospective series (n = 25) was 96.7, and no patient scored less than 70. Twenty-two patients were evaluated prospectively; in all cases the presence or absence of trisomy 18 was correctly predicted. The average score in the 11 patients without trisomy 18 was 41.4, and all patients scored 60 or less. In the 11 patients confirmed to have trisomy 18, the average score was 94.3, with a range of 70 to 113. This scoring system is an accurate, reproducible method for predicting trisomy 18 in neonates with multiple congenital malformations.

Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

Six cases of the McKusick-Kaufman syndrome (MKS), including two cases that were diagnosed prenatally, were studied. Review of the 54 previously described cases indicates that postaxial polydactyly and hydrometrocolpos in female patients are the hallmark features of this entity. Other manifestations, such as malformations of gastrointestinal, cardiovascular, and ophthalmic structures, occur less consistently. Affected children require careful medical follow-up. Recurrence of hydrometrocolpos following surgical repair may lead to serious sequelae, such as chronic renal failure. We believe that MKS is a distinct panethnic genetic entity, inherited in an autosomal recessive fashion, and that the diagnosis should be made only in female patients with hydrometrocolpos and polydactyly or in male patients with polydactyly who have an affected female relative.

Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome.

We present the clinical findings in two children with the Setleis bitemporal "forceps marks" syndrome. The striking features include the following: (1) bitemporal scarring, an anomaly that resembles forceps marks; (2) periorbital puffiness with wrinkling of the skin; (3) abnormalities of the eyebrows; (4) anomalies of the eyelashes; (5) flattening of the nasal bridge with a bulbous nasal tip; (6) increased mobility of the skin, associated with severely redundant facial soft tissue; and (7) normal growth and development. The evidence that suggests that this unusual syndrome is inherited in an autosomal recessive fashion includes the following: (1) seven of the patients have come from the relatively isolated towns of San Sebastian and Aguadilla in Puerto Rico; (2) two sets of affected siblings have been described, and, in both cases, the siblings' parents were normal; and (3) one of the children described herein is the product of a consanguineous mating. Although the pathogenetic mechanism is unknown, Setleis syndrome is clearly inherited as an autosomal recessive trait.

Fetal AIDS syndrome score. Correlation between severity of dysmorphism and age at diagnosis of immunodeficiency.

To objectively evaluate the fetal acquired immunodeficiency syndrome, we have developed a scoring system based on the presence of the characteristic features that we have previously reported. Using this scoring system, 37 children seropositive for the human immunodeficiency virus were classified into three groups: dysmorphologically severely affected (12 children); moderately affected (15 children); and mildly affected (ten children). There was a statistically significant correlation between the severity of the dysmorphic features and both the presence of opportunistic infections within the first year of life and the age at onset of symptoms associated with immune dysfunction, with the more severely stigmatized children manifesting symptoms at a younger age. There was no correlation, however, between severity of the dysmorphic features and presence of opportunistic infections at the time of our examination. We conclude that this scoring system may be useful in presymptomatic identification of severely dysmorphic human immunodeficiency virus-infected infants.