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PubMed1997

Heterogeneity in adducted thumbs sequence.

We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented irregular-shaped and swollen mitochondriae, but results of mitochondrial function tests were normal. The clinical findings were consistent with a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence.

Abnormalities, Multiple↗
PubMed1997

Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins.

Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu-Libdeh et al. [1993: Am J Med Genet 45:358-360] described a case with cystic renal dysplasia. We describe monozygotic twins discordant for the syndrome with kidney dysplasia. A postzygotic mutation is proposed as the cause of this autosomal dominant syndrome in this case.

Abnormalities, Multiple↗
PubMed1997

Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?

A new MCA/MR syndrome?: Two sibs are described who shares as clinical features microcephaly, short stature, deep set eyes, thick eyebrow, straight long nose with prominent bridge, septum extending below alae nasi, short philtrum, small mouth, high palate, prominent everted lower lip, and brachytelephalangy. To the best of our knowledge, this association has not been reported before.

Abnormalities, Multiple↗
PubMed1997

[Two cases of toluene embryopathy with severe motor and intellectual disabilities syndrome].

We reported two patients with severe motor and intellectual disabilities syndrome, who were born to mothers having inhaled organic solvents during pregnancy. They had microcephaly, cerebral palsy, mental retardation, seizures, growth failure and minor craniofacial anomalies, variable growth deficiency including a small midface, narrow bifrontal diameter, low-set ears, thin upper lips and micrognathia. Patient 1, a male, died at 8 years and 8 months. The autopsy of his brain revealed marked cerebral atrophy and destruction of bilateral temporal lobes with ventricular enlargements. Microscopic examination revealed migration disorders with polymicrogria at the remaining cerebrum and the cerebellum as well as very thin white matter. Much hemosiderin was found around ventricles, suggesting recurrent minimal bleedings which led to more brain atrophy. Patient 2, a 5 months old male infant, had infantile spasms. On CT and MRI, he had bilateral temporal lobe defect, which might be due to the infarction of bilateral middle cerebral arteries at the prenatal period. These clinical findings are similar to those of other embryopathies, caused by alcohol, phenytoin and other agents. Hersh et al. reported five cases of toluene embryopathy in 1985 and 1988, but they did not report such central nervous system abnormalities. The pathogenesis of toluene embryopathy remains to be solved, but our cases suggested the possible teratogenesis of toluene.

Abnormalities, Drug-Induced↗
PubMed1976

[A new (brachymelic) type of primordial dwarfism (author's transl)].

Second report of an apparently new type of primordial dwarfism characterized by severe intrauterine and postnatal growth retardation, striking craniofacial deformities and a peculiar osteochondrodysplasia. The major clinical findings are microcephaly, hypotrichosis, bulging eyes, prominent nose, micrognathia and short extremities. The osteochondrodysplasia is characterized by short and bowed humeri and femora with absent ossification of the femoral necks, small and dysplastic iliac wings, strikingly retarded ossification of the epiphyses and shortened metacarpal I and middle phalanges II-V. Possible this condition is caused by the homozygous state of mutant gene. The brachymelic type of primordial dwarfism differs from other forms of primordial dwarfism (particularly from case I of Seckel) by its skeletal abnormalities. The cases described by Seckel (and sometimes referred to as Seckel or bird-headed dwarfism) are heterogenous: Seckel dwarfism apparently does not exist as a nosologic entity.

Abnormalities, Multiple↗
PubMed1998

Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome.

We describe two boys with global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads are present anteromedial to the heels. Fetal finger and toe pads are present and palmar and plantar grooves are deeper than normal with "pillowing" of the areas between the grooves. No patients with similar clinical findings have been located, but these two children have a remarkably similar clinical presentation which we consider a "new" syndrome.

Child↗
PubMed1976

[The phenotype of the trisomy of the short arm of chromosome no. 4. (a new case with t (4p; 11q) (author's transl)].

Report on a 5 year old girl with the caracteristic features of the partial trisomy of the short arm of a chromosome no.4: short stature, microcephaly, hydrocephaly, enophthalmus, bulbous nose, deep set malformed ears, hypertrichosis, brachydactyly, hypoplastic ribs, abnormal EEG, imbecility. Trisomy originated from a reciprocal translocation in the father (46, XY, rcp (4;11) (p 13; q23)). q23)).

Abnormalities, Multiple↗
PubMed1998

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed2005

Down syndrome: clinical and cytogenetic analysis.

OBJECTIVE: To describe the clinical features and cytogenetic analysis of patients with Down syndrome (DS). DESIGN: An observational study. PLACE AND DURATION OF STUDY: The Departments of Paediatrics and Internal Medicine of Military Hospital, Rawalpindi (MH, RWP) from January 1998 to December 2001. PATIENTS AND METHODS: Two hundred and ninety-five children <18 years of age clinically diagnosed as DS were included. The clinical presentation features, associated anomalies and maternal characteristics were noted. RESULTS: Out of 295, 170 boys and 125 girls had chromosomal findings consistent with the diagnosis of DS. The mean presentation age was 16.2 months while 49 (16.6%) children presented in the neonatal period and 124 (42%) in infancy. Mongoloid slant, epicanthal folds, hypertelorism, simian crease, flat nasal bridge, and microcephaly were observed in >60% of cases. Congenital heart disease was documented in 103 (34.9%) cases and ventricular septal defect was the commonest cardiac anomaly. The cytogenetic analysis revealed that 282 (95.6%) had trisomy 21, 11(3.7%) had translocation, and only 2(0.7%) were mosaic. The mean maternal age was 29.8 years. One hundred and sixty (56.7%) cases with trisomy 21 had maternal age> 35 years, whereas 9/11(81.8%) cases of translocation had maternal age < 35 years. CONCLUSION: The cytogenetic pattern of DS was similar to previously described series. Inadequate antenatal screening and scarce neonatal examination results in late presentation of DS. Majority of cases can be diagnosed on the clinical features of DS.

Down Syndrome↗
PubMed1977

DeSanctis-Cacchione syndrome. A case report with autopsy findings.

One of the first patients studied by Cleaver on the DNA repair defect to ultraviolet light damage in xeroderma pigmentosum has been subjected to autopsy examination. This patient had the DeSanctis-Cacchione syndrome (microcephaly, dwarfism, mental deficiency, and choreoathetosis). Her autopsy findings were similar to those of the other three patients with this syndrome, emphasizing olivopontocerebellar atrophy, who underwent autopsy. The patient apparently could not tolerate psoralens because of increased incidence of carcinoma formation.

Adolescent↗
PubMed1978

Neonatal paroxysmal monorhythmic alpha activity.

Thirteen infants with neonatal seizures showed paroxysmal monorhythmic electrographic activity, predominantly in the alpha range (8 to 13 Hz) and localized to the rolandic cortical areas. This rhythmic discharge, which is commonly lateralized, represents an electrical seizure discharge. Such discharges may exist as the only electrographic seizure activity, but in the majority of cases (8/13) independent epileptiform discharges are observed in other cortical areas. All infants with paroxysmal monorhythmic alpha activity had clinically observed seizures. Computerized tomography performed six or more weeks after observing the electrographic abnormality demonstrated diffuse as well as localized cortical atrophy in a distribution similar to the monorhythmic alpha activity. In other cases, localized monorhythmic alpha activity was correlated on subsequent evaluations with focal neurological abnormalities (eg, hemiparesis and hemiatrophy) and a high incidence of microcephaly (83%). On the basis of these findings, we suggest that encephalomalacia may be important in the pathogenesis of paroxysmal monorhythmic alpha seizures in the neonate.

Alpha Rhythm↗
PubMed1984

Human cytomegalovirus infection and disorders of the nervous system.

Infection with human cytomegalovirus (CMV) occurs in nearly 1% of live-born infants, and from 60% to 80% of the inhabitants of the United States acquire CMV infection by mid adulthood. While neurologic disorders do not develop in the majority of congenitally infected infants, congenital CMV infection can severely damage the developing nervous system, causing microcephaly, psychomotor retardation, seizures, and deafness. Furthermore, approximately 10% of infants who are asymptomatic at birth subsequently exhibit sensorineural hearing loss. In the adult, CMV infection has been associated with the Guillain-Barré syndrome, meningoencephalitis, and retinitis. Although Guillain-Barré syndrome can accompany CMV infections in previously healthy adults, meningoencephalitis and retinitis occur more commonly in immunosuppressed patients, particularly among organ transplant recipients. In total, at least 7,000 persons in the United States each year have neurologic disorders attributable to CMV infection.

Adolescent↗
PubMed1993

Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects.

OBJECTIVE: Neuropathologic evaluation was performed on an infant with fetal alcohol effects. DESIGN: Coronal brain sections and representative tissue blocks stained with hematoxylin-eosin, silver stain, and immunocytochemical stains for hypothalamic and pituitary hormones were evaluated for neuropathologic abnormalities. PATIENT: A 2.5-month-old American Indian girl who had been exposed to first-trimester maternal binge alcohol abuse died after persistent problems of growth failure, sodium imbalance, aberrant temperature regulation, respiratory distress, and seizures. RESULTS: Autopsy revealed severe microcephaly, hypertelorism, midfacial hypoplasia, a high-arched palate, shortened palpebral fissures, and a small brain. The frontal lobes were fused anteriorly; olfactory bulbs and tracts were absent; and optic nerves were hypoplastic. An enlarged and bulbous hypothalamus obscured the pituitary gland. The thalamus and caudate nuclei were fused across the midline. Posteriorly, the single ventricle split to form rudimentary lateral horns. The anterior corpus callosum, septum pellucidum, fimbria, and fornices could not be identified. The anterior commissure and supraoptic nuclei were microscopically present. Many Purkinje cells were horizontally positioned, with abnormal dendritic structure. The posterior pituitary lobe was absent, and the infundibulum was flanked by a hypoplastic adenohypophysis and a large subarachnoid heterotopia. Immunocytochemical studies identified only vasopressin and neurophysin in the hypothalamus and only growth hormone and prolactin in the pituitary gland. CONCLUSION: To our knowledge, an association between fetal alcohol effects and a complex cerebral anomaly with features of incomplete holoprosencephaly and septo-optic dysplasia has not previously been reported and suggests a possible common pathogenesis needing further study.

Brain↗
PubMed2005

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

OBJECTIVE: To document novel homozygous mutations in the gene for deoxyguanosine kinase (DGK) in 3 children with mitochondrial DNA depletion. DESIGN: Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and liver cirrhosis, optic dysplasia, nystagmus, and microcephaly in the third patient. We sequenced the whole coding region of the DGK gene. RESULTS: We identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins. CONCLUSION: These data confirm that DGK mutations typically affect the liver and brain.

Blotting, Northern↗
PubMed1975

The short arm deletion syndrome of chromosome 4 (4p- syndrome).

Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

Abnormalities, Multiple↗
PubMed2000

Clinical and cardiorespiratory assessment in children with Down syndrome without congenital heart disease.

OBJECTIVE: To assess the clinical and functional status of a young Down syndrome (DS) population without congenital heart disease. DESIGN: Prospective study of children with DS and control subjects. SETTING: Bambino Gesù Children's Hospital, Rome, Italy. PARTICIPANTS AND METHODS: Forty-two children with DS (mean +/- SD age, 9.8 +/- 3.6 years) underwent genetic, clinical, neuropsychological (IQ), and cardiorespiratory evaluation. Cardiorespiratory fitness was assessed with a treadmill test and a lung function test to determine forced vital capacity, first-second forced expiratory volume, and peak expiratory flow. Data were expressed as a percentage of the predicted values for control children. To assess cooperation during exercise testing, we devised a compliance scale assigning a score according to the subjects' ability to understand instructions, ability to walk and run as required, and need for vocal encouragement. RESULTS: Eighteen (43%) of 42 children with DS were obese, 10 (24%) were short, and 17 (40%) had microcephaly. On the Leiter International Performance Scale, 2 of 35 subjects had a normal IQ score (80-120); all others had low IQ scores (79 to <40). Five subjects did not undergo cardiorespiratory assessment. Eighteen of 37 subjects completed lung function tests: the results for 10 were unremarkable, and results from 8 revealed reduced forced vital capacity because of poor compliance. The subjects tested had low exercise tolerance (mean +/- SD tolerance percentage, 61% +/- 12%), mild tachycardia (maximal heart rate, 91% +/- 4%), and a mild hypertensive response (maximal blood pressure, 89% +/- 8%). Compliance scores correlated significantly with exercise time and age but not with IQ. CONCLUSIONS: Clinical and cardiorespiratory assessment is feasible in subjects with DS without congenital heart disease and should be useful in gauging their fitness level for safe physical activity.

Adolescent↗
PubMed2000

Neurodevelopmental follow-up at 36 months' corrected age of preterm infants treated with prophylactic indomethacin.

BACKGROUND: Previous reports have suggested that prophylactic indomethacin decreases cerebral blood flow and may play a role in the development of ischemic brain injury and developmental handicaps. OBJECTIVE: To assess the neurodevelopmental outcome of subjects at 36 months' corrected age (CA) who, as low-birth-weight infants, received prophylactic low-dose indomethacin within the first 24 hours of life to prevent patent ductus arteriosus. SETTING: Newborn intensive care nursery and outpatient follow-up clinic at Children's Hospitals and Clinics of Minneapolis, Minneapolis, Minn. DESIGN: Ninety infants with birth weights of 600 to 1250 g were entered into a prospective, randomized, controlled trial to receive either prophylactic indomethacin, 0.1 mg/kg, or placebo in the first 24 hours and again every 24 hours for 6 doses to prevent patent ductus arteriosus. Nonresponders were treated with standard therapeutic indomethacin or ligation. Neurodevelopmental assessment at approximately 36 months' CA included medical and developmental histories, physical examinations, and developmental testing using the Bayley II Scales of Infant Development on subjects up to 42 months' CA. Subjects were classified as (1) normal, (2) mildly to moderately abnormal, or (3) severely impaired. RESULTS: Forty-two (98%) of 43 subjects who received prophylactic indomethacin survived compared with 46 (98%) of 47 who received placebo. Sixty-six (75%) of 88 survivors were seen for neurodevelopmental assessment at 36 months' CA. This group included 29 (69%) of 42 who received prophylactic indomethacin and 37 (80%) of 46 who received placebo. Twenty-three (79%) of 29 infants in the prophylactic indomethacin group had normal neurodevelopmental assessments at 36 months' CA compared with 26 (70%) of 37 placebo-treated subjects (P = .68). Of 4 significantly impaired subjects treated with prophylactic indomethacin, 1 had spastic diplegia; 1, spastic quadriplegia; 1, cognitive delay; and 1, significant motor delay. Of 8 significantly impaired placebo-treated subjects, 7 had spastic diplegia; 1, microcephaly. CONCLUSION: The use of prophylactic low-dose indomethacin when initiated in the first 24 hours of life in low-birth-weight infants to prevent patent ductus arteriosus is not associated with adverse neurodevelopmental outcome at 36 months' CA.

Cardiovascular Agents↗
PubMed1975

A new arthrogryposis syndrome with facial and limb anomalies.

A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.

Abnormalities, Multiple↗