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PubMed1979

[The cerebro-oculo-facio-skeletal syndrome].

A further case of the cerebro-oculo-facio skeletal syndrome is described. The child, the first of healthy parents with no significant family history, died on the 4th day of life because of renal failure and respiratory difficulties. The dysmorphic features were microcephaly, microphthalmia, high nasal bridge, lax skin with a prominent skin fold extending below the eyes, large upper lip, fixed flexion deformities of the limbs, short fingers with campodactyly, talus valgus and longitudinal plantar groove. At autopsy there was renal agenesis, a hypoplastic bladder, bilateral cataract with atrophy of the iris and retina. The relationship between Potter's syndrome and other oculo renal syndromes are discussed. The diagnosis is important because this syndrome is inherited as an autosomal recessive.

Abnormalities, Multiple↗

PubMed1975

Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q+), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.

Abnormalities, Multiple↗

PubMed1971

An oculocerebrofacial syndrome.

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.

Adolescent↗

PubMed1977

[The 18p-syndrome (author's transl)].

Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.

Abnormalities, Multiple↗

PubMed1979

[Phenylalanine-fetopathia in twins of an undiagnosed phenylketonuric mother (author's transl)].

A case report of microcephalic twins born to a hithertoo undedected phenylketonuric mother is given. The female twin suffered from phenylketonuria, too. The clinical findings included microcephaly, growth retardation, retarded bone age and an unusual facies. The psychomotor development was retarded in both twins, but more so in the phenylketonuric twin despite appropriate low phenylalanine diet.

Adult↗

PubMed1977

Fanconi's anemia in infancy. Report of a case diagnosed in the pre-anemic stage.

A 6 1/2-month-old girl is described, in whom the diagnosis of Fanconi's anemia in the pre-anemic stage was made on the basis of the following findings: growth failure, microcephaly, modest epicanthal folds, pigment spots, and chromosomal breaks. 4 months later progressive bone marrow failure developed and dramatically evolved into pancytopenia refractory to therapy.

Anemia, Aplastic↗

PubMed1980

A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation.

A 17-year-old female patient presented extreme growth failure, severe microcephaly and developmental delay, and a unique pattern of congenital anomalies, predominantly of the skeleton and the skin. Prominent findings included hidrotic ectodermal dysplasia with virtually complete absence of body hair, ichthyosiform hyperkeratosis of the skin over the lower legs, dysplasia of toenails; small hands and feet with with short fifth fingers and toes complete cutaneous syndactyly between toes 4 and 5; in X-rays, fusion of several vertebral bodies, humero-radial ankylosis, fusion between talus and navicular bone, lunate and triquetral, and proximal fusion between metacarpals 4 and 5; and luxation of the right femoral head. The patient might represent a hitherto undescribed malformation syndrome of unknown etiology.

Abnormalities, Multiple↗

PubMed1982

[Craniofacial dysmorphism with flexion of the fingers. Marden-Walker syndrome?].

The Marden-Walker syndrome was first described in 1966. The main features are microcephaly, peculiar facies due to blepharophimosis, micrognathia, low-set ears, joint contractures, muscular hypotonia, growth failure, and developmental delay. We report the case of a child presenting with almost all of these features, but with muscular hypertonia. Differential diagnosis includes Schwartz-Jampel syndrome. Pathogenesis is unknown.

Face↗

PubMed1984

[Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].

Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.

Abnormalities, Multiple↗

PubMed1984

Clinical consequences of heterozygosity for autosomal-recessive diseases.

Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong minority fitness of heterozygotes is increased. This review will be devoted to a consideration of the extent to which heterozygotes for a wide variety of nominally recessive diseases are subject either to an increased liability for common diseases or slight shifts of behavioral characteristics. The available evidence has been collected and will be discussed in three steps: Most studies are available for phenylketonuria. For this group of diseases, a slight reduction of average--especially verbal--I.Q. in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations. The PKU example is used to discuss methodological problems involved in such studies. Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia- teleangiectasia (increased cancer risk). Since heterozygotes for autosomal recessive diseases are common, it is possible that an appreciable fraction of "multifactorial" genetic liabilities for common, "constitutional" or mental disease might simply be due to heterozygosity for genes whose homozygous affects are already well known. By the same token, much of the "normal" genetic variability influencing cognitive performance (I.Q.)--especially in the lower range--and personality characteristics could also be caused by recessive genes in the heterozygous state.

Adolescent↗

PubMed1984

[Descriptive epidemiologic study of congenital abnormalities of the central nervous system in Spain (1976-1982)].

Authors present an epidemiologic study of the five most frequent congenital birth defects of the central nervous system: anencephaly, spina bifida, encephalocele, hydrocephaly and microcephaly. Over a total of 409 liveborns with some of these anomalies, gathered from 1976 to 1982 in 46 maternities spread all over Spanish geography, they analyze its prevalence at birth, temporary and geographical distribution, sex ratio, gestational age, birth weight and maternal age. To analyze some of these variables they have separated different types of anomalies in three groups depending if they were present as an only defect (isolated), together with other defects in a not syndromic picture (associated), and forming part of a described syndrome (syndromes). This separation is an intention of forming homogeneous ethiopathogenic groups upon which epidemiologic methodology can be applied with assurance to interpret results in a right way.

Anencephaly↗

PubMed1984

Delineation of a characteristic phenotype in distal trisomy 2q.

A recombinant chromosome change with dup(2)(q34----qter) secondary to a paternal inv(2) (pter----q34) was found in a 19-year-old boy and his 12-year-old sister. Both were born at term with normal birth weight and head circumference. Hypertelorism, irregular nystagmus, broad flat nasal bridge, and short beaked nose with anteverted nostrils were noted neonatally. Both developed microcephaly and brachycephaly. Cardiac, urogenital, retinal, and optic disc anomalies and onset of progressive kyphosis in adolescence were detected. Their facial appearance, with birdlike "Muppet Gonzo" features, was increasingly accentuated with age. Both had mild mental retardation with IQ's around 70. The clinical findings in these siblings were compared with those described in 23 cases with various 2q partial trisomies. The results of the present study and previous studies indicate a characteristic clinical presentation in children and adults. The reluctance to define the specific phenotype for distal 2q trisomy might be due to the fact that the clinical features tend to be considerably more pronounced towards adolescence than neonatally.

Abnormalities, Multiple↗

PubMed1983

[Seckel's syndrome (or bird's head dwarfism). Apropos of a case].

A 13-year-old boy presented with Seckel's syndrome, still called bird's head nanism, characterized by: --nanism, mental retardation, microcephaly, and protrusio of the middle third of the face. The typical facial appearance enabled a detailed study to be conducted of both clinical and radiological features, including, particularly, an architectural and structural analysis of profile teleradiographic images, providing objective data on the craniofacial deformities. Skeletal and systemic anomalies are also described, together with elements documented in the literature but absent in the present case. The etiology of this syndrome remains unknown.

Adolescent↗

PubMed1983

[The incomplete fetal alcohol syndrome].

In contrast to the wellknown picture of the "fetal alcohol syndrome" (FAS), clinical symptoms of the incomplete FAS are less frequently recognized compared to the high incidence of the syndrome as stated in the literature. The diagnostic problem is a clear differentiation between mild forms of the incomplete FAS and clinical normality. Post-natal growth deficiency and microcephaly of unknown aetiology, clinical symptoms of hyperactivity, learning disabilities or mild mental retardation are the main features of the incomplete FAS. The diagnosis is established only by a positive history of maternal alcohol abuse.

Child↗

PubMed1984

[Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)].

The authors report the case of an infant presenting with a syndrome associating dwarfism, microcephaly, facial dysmorphy and important skeletal abnormalities consisting of radiologic changes concerning the skull, long bones, vertebrae, pelvis, ribs, metacarpus and metatarsus. Severe cerebral atrophy and neurologic involvement were responsible for death in the first year of life. This rare syndrome is likely to have an autosomal recessive transmission.

Bone Diseases, Developmental↗

PubMed1980

[Partial deletion of the short arm of chromosome 3. Report of a case (author's transl)].

A patient with partial deletion 3p is reported. Only one other patient has been previously reported in the literature. Features the two share include microcephaly, failure to thrive, ptosis, symophrys, a broad and flat nose, a prominent maxilla, an over developed chin, and an increased number of loops on the finger tips. These observations are compared in type and countertype with known observations of trisomy 3p and of 3q duplication/3p deletion.

Abnormalities, Multiple↗

PubMed1982

[Seckel's syndrome: a form of chondrodysplasia? (author's transl)].

The true entity of Seckel's (bird headed dwarfism) has been hardly questioned due to the variety of malformations reported in these patients. However all cases reported have in common: dwarfism, bird head, microcephaly, mental retardation and malformations of different kinds. All these features must be present for the correct diagnosis. In two cases of Seckel's syndrome, full diagnostic features and post-mortem findings are reported. Special emphasis is made on the neuropathologic lesions. For the first time in the literature, changes in the epiphyseal tibial cartilage (with histochemical and EM studies) are described and correlated to dwarfism. Based on morphological data the authors propose Seckel syndrome as a condrodysplasia.

Abnormalities, Multiple↗

PubMed1980

[Role of toxoplasmosis in the development of central nervous system lesions in children].

Because of the high degree of infestation in women capable of bearing children in Europe (70 to 80%) with Toxoplasma gondii the authors have studied all babies admitted for clinical treatment at the institute of Paediatrics in Lublin for clinical and serological indications of a connatal toxoplasmosis. In the period between January 1977 and December 1978, 133 babies showed positive findings. The most frequently occurring findings were lesions of the central nervous system (hydrocephalus 21 X, microcephaly 8 X, porencephaly 18 X, convulsions and psychomotor retardation 11 X, subdural hygroma and haematoma 34 X, encephalomeningitis 7 X). Intracranial calcifications within the classical triad were only found in two cases. Other internal lesions without cerebral deficiency symptoms were found in 18 children. The authors point out the possible connection between vascular lesions caused by toxoplasmosis and subdural effusions. One might think of both permeability disturbances and direct vascular lacerations. The treatment consisted in repeated punctures, trepanations and antibiotics (Spiramycin, Daraprim, Orisul). The serological proof of the presence of toxoplasmosis may well lag behind the clinical symptoms.

Brain Diseases↗