The role of genetic counseling in visually impaired adolescents.

The presence of genetic disorders in a high percentage of adolescents with significant visual impairments emphasizes the important role that genetic counseling can play in this population. However, its intended goals have been controversial. Responses to structured interviews about genetic counseling services from three groups of former students from the Kentucky School for the Blind were compared.

Ivemark's "asplenia" syndrome: a single gene disorder.

Congenital heart defects as a group represent a significant proportion of congenital malformations. Most are isolated and multifactorially determined; a relatively small proportion are due to a single gene defect, and result in an increased risk of recurrence among first-degree relatives. We have reported the cases of three male siblings with Ivemark's "asplenia" syndrome to support an autosomal recessive mode of inheritance.

The physician under Public Law 99-457.

Public Law 99-457, enacted in 1986, reauthorizes P.L. 94-142 (the Education of all Handicapped Children's Act of 1975) and extends the mandate of that earlier legislation to all handicapped children ages 3 to 5.

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded.

Mild intellectual deficits in a child with 49,XXXXY.

Severe mental retardation usually is present in males with a 49,XXXXY karyotype, although occasionally, intellectual functioning has been reported to be in the mild range of mental retardation. One child was previously described to have normal development at 15 months, but had mental retardation at 41 months. We present a male with 49,XXXXY who had mild-cognitive and motor delays and age-appropriate adaptive skills at 59 months.

Does a supernumerary nipple/renal field defect exist?

In 65 patients evaluated for suspected genetic and/or developmental problems, a roentgenographic study of the kidneys was performed because of the presence of a supernumerary nipple (SNN). Seven of 65 (11%) had a significant renal lesion that included conjoined kidneys in a female with Fanconi's anemia. Four of these patients did not have signs or symptoms suggestive of an underlying urinary tract pathologic condition.

Familial iridoplegia.

Fixed, dilated pupils in childhood are usually due to interruption of parasympathetic innervation as a result of neurologic impairments or occur following pharmacologic mydriasis. We present a familial form of iridoplegia without structural defects of the eye which is consistent with a probable autosomal dominant mode of inheritance. Examination of other family members should be part of an affected individual's evaluation particularly when this finding occurs as an isolated defect.

Computed tomography of the head in the evaluation of microcephaly.

Eighty-five infants and children found to have microcephaly had computed tomographic (CT) brain scans performed. A greater degree of microcephaly correlated with the finding of atrophy or ventricular dilation on CT scan. Patients who had known preceding destructive brain insults had the highest incidence of abnormal findings on scans (20/22).

Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.

Erythrocyte assays for hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity performed on two male half-siblings with hyperuricemia, produced results consistent with classic Lesch-Nyhan syndrome. Due to the absence of neurologic abnormalities, cognitive deficits, or self-mutilation, HGPRT activity was measured by intact fibroblast assay which revealed partial enzyme deficiency. The presence of an unstable mutant enzyme may have led to the discrepancy between the erythrocyte and fibroblast studies.

Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association.

An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included a cardiac defect and hypospadias. Similarities exist between Townes syndrome and VACTERL association, which is generally regarded to be sporadic in nature.

Toluene embryopathy.

Three children with microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency were born to women who inhaled large quantities of pure toluene throughout pregnancy. The features in our patients were reminiscent of the patterns of malformation previously described following in utero exposure to alcohol, certain anticonvulsants, and hyperphenylalaninemia. It is possible that there is a variable and nonspecific teratogenic phenotype characterized by alterations in growth, development, and morphogenesis.

Sternal malformation/vascular dysplasia association.

Sternal defects associated with superficial craniofacial vascular lesions are rare. We report on two additional patients with a sternal cleft and cutaneous, craniofacial hemangiomata to emphasize that this unusual combination of findings represents a recognizable sternal malformation/vascular dysplasia association. In addition, internal vascular lesions were also identified in these individuals, in one instance involving the upper respiratory tract and in the other the viscera.

Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

A young woman with features resembling de Lange syndrome had a normal banded karyotype. Similar phenotypes were present in a maternal aunt and uncle. Utilizing high-resolution banding, the propositus was found to have a chromosomal abnormality characterized by dup(4p)del(9p).

Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue.

Two unrelated infants with delayed development and suspected abnormalities of the upper limbs were found to have the Coffin-Lowry syndrome. Both had marked fullness of the forearms in the presence of normal skeletal structures which resulted from increased subcutaneous fat. Although initially misleading, the forearm changes may serve as an early diagnostic clue in this disorder.

Cognition in cerebral gigantism: are the estimates of mental retardation too high?

The psychological findings on 10 children with cerebral gigantism are reviewed. Infants with cerebral gigantism showed a consistent pattern of psychomotor delay. Preschool age children demonstrated signs of a primary language disorder, and school-age patients had learning disabilities.

Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.

A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature.

Behavioral correlates in the happy puppet syndrome: a characteristic profile?

Nine children with the "happy puppet" syndrome are presented here and 19 previously reported cases are reviewed. A characteristic psychological profile is suggested by the children's "unfocused" activities and inconsistent responsiveness to their surroundings. Behavioral characteristics are atypical for mental age and do not appear to represent unusual seizure equivalents.