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PubMed1981

[Ring chromosome 13 and multiple malformations (author's transl)].

A male infant with a ring chromosome identified by R, D and G banding techniques is reported. Karyotype was 46, XY,r(13)(p12q22). The main clinical features were severe mental retardation, microcephaly, frontal bossing a peculiar Greek profile, microphtalmia, coloboma, high and narrowed palate, low-set ears and genital anomalies. The three groups in the 13q deletion syndrome proposed by Niebuhr and Ottosen (1973) are commented. These groups are based on clinical features and loss of segment in the long arms of chromosome 13. Our patient has many of the clinical features of the first group.

Abnormalities, Multiple↗
PubMed1981

Hirschsprung megacolon and cleft palate in two sibs.

We describe a brother and sister with microcephaly, hypertelorism, short stature, submucous cleft palate, learning problems, and Hirschsprung aganglionic megacolon (HAM). Literature review failed to show any previous cases combining the above features.

Adolescent↗
PubMed1980

[Radiological considerations of cranio-facial volumetry in the newborn (author's transl)].

The authors have reported that the wide range of sizes of the normal skull, make difficult the assessment of macrocephaly and microcephaly of mild degree. For this fact they studied and applied a simple method based on the measurement of the cranial capacity and facial volume and on their relationship; they have calculated the "cranio-facial ratio" (CFR), in 42 normal newborns (21 females and 21 males), whose range is sufficiently delimited, consenting a more precise judgement in pathological field.

Body Weight↗
PubMed1981

Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome.

The ability to make a prenatal diagnosis of Meckel syndrome (encephalocele, polydactyly, and polycystic kidney) by ultrasound is described. Three cases are detailed; in 2 of these the diagnosis was made at 18 and 36 weeks' gestation, respectively. In case 1 Meckel syndrome was identified by the presence of oligohydramnios, microcephaly, and enlarged cerebral ventricles. In case 2 oligohydramnios was associated with an encephalocele, bilateral renal enlargement, and a polydactyly. In case 3 the diagnosis was excluded in a fetus at risk. The usefulness of ultrasound in making this diagnosis is discussed for cases in which the amniotic fluid alpha-fetoprotein value is normal, inconclusive, or unobtainable.

Abnormalities, Multiple↗
PubMed1995

The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

We describe six children of Arab origin with a syndrome of congenital hypoparathyroidism, severe growth retardation, developmental delay, and dysmorphism. The most prominent dysmorphic features were microcephaly, facial and dental anomalies, and small hands and feet. Bone age was markedly retarded. Neither immunological nor chromosomal abnormalities were found. Insulin-like growth factor-1 serum levels, measured in two patients, were abnormally low.

Abnormalities, Multiple↗
PubMed1995

Osteodysplastic primordial dwarfism: a case with features of type II.

We describe a 22-month-old Japanese girl with severe microcephaly with a prominent nose and a receding chin, developmental delay, marked intrauterine and postnatal dwarfism with limb shortening and brachydactyly, and distinctive radiological changes of the skeleton. The radiological findings include hypoplasia of the short tubular bones, multiple pseudoepiphyses in the bases of the metacarpals, coxa valga, a wide pelvis with iliac flaring, thoracolumbar scoliosis, and disharmonious ossification delay. The clinical and radiological features are somewhat different from those of previously reported cases with osteodysplastic primordial dwarfism. The clinical and radiological manifestations of osteodysplastic primordial dwarfism are reviewed and compared with those in our patient.

Dwarfism↗
PubMed1995

Sonographic lenticulostriate vasculopathy in infants: some associations and a hypothesis.

PURPOSE: To describe the causes of infantile lenticulostriate vasculopathy (LSV) as demonstrated by sonography and propose the pathogenesis of these findings. METHODS: Five hundred eighty-six infants were examined via echoencephalography because of seizures, psychomotor retardation, dysmorphism, congenital malformation, microcephaly, macrocephaly, bulging of anterior fontanel, consciousness disturbance, or prematurity. We directed our attention on the sonographic study to the basal ganglionic and thalamic areas. Twenty-eight of the 586 patients underwent color Doppler studies. RESULTS: In 34 infants with gray-scale neurosonographic findings of LSV, 16 were associated with various causes that have been reported before. In 8 patients entities not previously associated with LSV were found: neonatal lupus, neonatal hypoglycemia, uncomplicated prematurity, encephalitis, and head injury. In the remaining 10 cases, a specific cause could not be found. The LSV was found in 16 (40%), 5 (14%), and 13 (3%) patients with perinatal, acquired, and nonspecific causes, respectively. Generally, this is an uncommon finding because it was observed in only 34 (5.8%) of the study infants; 24 of these 34 had a documented cause of the vasculopathy. With LSV associated with perinatal causes there was a greater chance of sonographic LSV's developing than with that of acquired causes. CONCLUSIONS: We suggest that sonographic LSV is a nonspecific marker of a previous insult to the developing brain, and the special hemodynamics of the fetal brain plays an important role in its pathogenesis.

Basal Ganglia↗
PubMed1994

The insular claustrum in the methylazoxymethanol acetate (MAM) treated rats shows two different populations of neurons.

Methylazoxymethanol acetate (MAM) is a substance that inhibits migration of neurons in the embryonic brain. After intraperitoneal injection of two different doses of MAM to pregnant rats, microcephaly with or without complete development of the cerebral cortex was observed in every litter. High MAM doses (30 mg/kg) resulted in the lack of superficial layers (II-IV) of the cerebral cortex when the deep layers (V, VI) were seen. The claustrum was present but composed of loosely packed, medium-size, triangular or fusiform neurons with anarchic oriented long axes. After administration of low MAM doses (14 mg/kg) two different parts (medial and lateral) of the insular claustrum were observed. Our results suggest that neurons of the insular claustrum create two different subpopulations of cells, which were similar to that observed in primitive insectivore (e.g., hedgehog), but fuse in development.

Animals↗
PubMedDate not supplied

Aase-Smith syndrome: report of a new case with unusual features.

A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.

Anemia, Aplastic↗
PubMed1993

The pathology of the claustrum in Galloway syndrome indicates the existence of claustro-entorhinal pathway.

The morphology of the claustrum in Galloway syndrome was investigated. Galloway syndrome is a rare autosomal recessive disease that causes microcephaly and is associated with kidney pathology. The brain examined was small, and the external surface of the hemispheres was lissencephalic, with an abnormal gyrification pattern. The whole cerebral cortex showed severe pathological changes, but the most affected area was the cortex lying on the medial aspect of the temporal lobe, especially the entorhinal cortex. In addition, the paraamygdalar and temporal parts of the claustrum were intensively changed. These results may confirm the opinion that the claustrum is a cortico-dependent structure and that the limbic cortex receives large projection from its ventral parts.

Abnormalities, Multiple↗
PubMed1976

[Clinical aspects of pathogenesis of alcohol embryopathy (author's transl)].

68 cases of alcohol embryopathy are reported. The main symptoms are intrauterine and postnatal growth retardation (91%), microcephaly (87 per cent), psychomotor and mental retardation (84 per cent) and a typical craniofacial dysmorphism. Other malformations are frequently found such as cardiac defects (31 per cent), anomalies of joints (23 per cent) and genitalia (50 per cent). There is a marked variation in the intensity of the malformations. Taking into account the extent of the craniofacial dysmorphism and the cerebral damage, a classification into three types (I-111) of alcohol embryopathy is proposed. That ethanol has a teratogenic effect seems to be confirmed. The mother's clinical history suggests that the quantity of alcohol consumed has no marked influence on birth weight, length of gestation and severity of the symptoms. Possibly a defective ethanol metabolism in the severely affected mothers may account for the dysplasias.

Abnormalities, Drug-Induced↗
PubMed1993

Seckel's syndrome: a case report.

The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical examination was carried out on the 44 cases of Seckel's syndrome described in the literature. Only 19 of these cases appear to be comparable with Seckel's description, while the others are dubious, due to incomplete data. Some can be identified as ordinary cases of dwarfism with microcephaly or mental deficit. Until more precise and objective parameters are established, it would be advisable to refer to this particular form of dwarfism as "Virchow-Seckel type dwarf-headed dwarfism," in order to avoid using the more binding term "syndrome" and the misleading term "bird-headed."

Abnormalities, Multiple↗
PubMed1995

Ocular dysfunction associated with mental handicap.

The aim of this article is to show the main general and ocular characteristics of a group of 46 mentally handicapped people of different IQ and age who were provided with visual care. Many different syndromes and neurological alterations have been described in the literature. The case types and number of people studied for each condition attending our clinics were: syndromes: Down's (25), Soto (2), West (2), Rubinstein-Taybi (1), triple X (1); neurological conditions: cerebral palsy (8), microcephaly (5), hydrocephaly (2). In our study the ocular findings were high incidence of ametropies: 58.7% hyperopia, 21.7% myopia, 19.5% astigmatism and 28% strabismus.

Adolescent↗
PubMed1996

A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?

We describe a 15-months-old female child with proximal 10q trisomy due to direct duplication 10q11 --> q223. Reviewing the literature a further delineation of the clinical phenotype of this rare chromosomal abnormality is proposed. The main clinical features associated with 10q11-q22 duplication are: mild to moderate mental retardation, microcephaly, postnatal growth retardation, ocular malformations, heart defects, abnormalities of the extremities and typical facies with thin, bowed upper lip, upturned nasal tip, high palate, small chin and everted ears.

Abnormalities, Multiple↗
PubMedDate not supplied

Unilateral cleft lip in a boy with Angelman syndrome.

We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with Angelman syndrome. Fluorescent in situ hybridization and DNA analysis showed a deletion of chromosome 15 q11-13 and thus confirmed the diagnosis. In addition, the patient had a unilateral, incomplete cleft lip, a feature which has not previously been reported in Angelman syndrome.

Angelman Syndrome↗
PubMed1997

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13, and thus appear to have a mutation in the imprinting process for this region. Here we describe detailed clinical findings of five AS imprinting mutation patients (three families) and two PWS imprinting mutation patients (one new family). All these patients have essentially the classical clinical phenotype for the respective syndrome, except that the incidence of microcephaly is lower in imprinting mutation AS patients than in deletion AS patients. Furthermore, imprinting mutation AS and PWS patients do not typically have hypopigmentation, which is commonly found in patients with the usual large deletion. Molecular diagnosis of these cases is initially achieved by DNA methylation analyses of the DN34/ZNF127, PW71 (D15S63), and SNRPN loci. The latter two probes have clear advantages in the simple molecular diagnostic analysis of PWS and AS patients with an imprinting mutation, as has been found for typical deletion or UPD PWS and AS cases. With the recent finding of inherited microdeletions in PWS and AS imprinting mutation families, our studies define a new class of these two syndromes. The clinical and molecular identification of these PWS and AS patients has important genetic counseling consequences.

Adult↗