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We report two cousins, born to consanguineous parents, with an alopecia-mental retardation syndrome and the additional features of microcephaly and epilepsy. Similar reported cases are reviewed and genetic heterogeneity is suggested.
We present a 5-year-old boy with developmental delay, severe microcephaly and preaxial polydactyly. These features are very similar to those previously described by Howard and Young (1) in their princeps report.
Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-adactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder.
Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all of the major features and share a distinct facial appearance with upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, pointed chin and prominent ears. The clinical features in our patients support the hypothesis of a characteristic facial phenotype in this syndrome.
We describe a patient who was evaluated because of delayed development. The patient had microcephaly and cafe-au-lait spots and the facial features included upward slanting of the palpebral fissures, short nasal bridge and a highly arched palate. In addition the external ears had bilateral over folded helices, there was clinodactyly of the fourth and fifth fingers and multiple cafe-au-lait spots on the back, buttocks and thighs. Chromosomal analysis of peripheral blood showed 46,XY,-r(12)(p13.3q24.33)[73]/45,XY,-12[8]/47,XY,r(12)(p13.3q24.33),+r(12)(p13.3q24.33)[2]. This is the eighth case of a patient with a ring chromosome 12 to be reported so far. The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features.
This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retardation. This combination of features seems to be distinct and to represent a new autosomal recessive syndrome.
A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).
Cataract, microcephaly, mental retardation and Perthes-like changes in hips were found in two sibs. This combination of congenital anomalies may be a syndrome of autosomal recessive origin.
We report the observations of three sisters with the same autosomal recessive syndrome characterized by growth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among other family members. This syndrome is one of the many neurocutaneous syndromes and does not seem to fit any of the previously published descriptions.
The holoprosencephaly sequence (HS) is characterized by abnormalities in forebrain cleavage and midface development. Familial holoprosencephaly has been reported in several families and there appears to be variable expression of the disorder in those who inherit the gene. Previous investigators have suggested hypotelorism and/or missing central incisors as mild manifestations of autosomal dominant HS. We evaluated a large kindred with three individuals with severe brain anomalies and 12 individuals with minor manifestations of the disorder. The most consistent sign in those mildly affected was microcephaly. We suggest that head circumference is an important part of the evaluation of the relatives of a patient with holoprosencephaly.
Fibroblast cultures from six unrelated patients having a familial type of immunodeficiency combined with microcephaly, developmental delay, and chromosomal instability were studied with respect to their response to ionizing radiation. The cells from five of them resembled those from individuals with ataxia telangiectasia (AT) in that they were two to three times more radiosensitive on the basis of clonogenic cell survival. In addition, after exposure to either X-rays or bleomycin, they showed an inhibition of DNA replication that was less pronounced than that in normal cells and characteristic of AT fibroblasts. However, the patients are clinically very different from AT patients, not showing any signs of neurocutaneous symptoms. Genetic complementation studies in fused cells, with the radioresistant DNA synthesis used as a marker, showed that the patients' cells could complement representatives of all presently known AT complementation groups. Furthermore, they were shown to constitute a genetically heterogeneous group as well. It is concluded that these patients are similar to AT patients with respect to cytological parameters. The clinical differences between these patients and AT patients are a reflection of genetic heterogeneity. The data indicate that the patients suffer from a chromosome-instability syndrome that is distinct from AT.
A prospective ultrasound evaluation of 150 normal pregnant women was conducted between 15 and 40 weeks' gestation. A variety of biometric measurements were obtained that included measurements of the frontal lobe distance (the anterior edge of the frontal horns of the lateral ventricles to the frontal bone) and the thalamic frontal lobe distance (measured from the posterior edge of the thalami to the frontal bone). Analysis of these data revealed a high degree of correlation between the gestational age and the frontal lobe distance (R2 = 0.89, p less than 0.0001), and between the gestational age and thalamic frontal lobe distance (R2 = 0.93, p less than 0.0001). Similarly, a high degree of correlation was also found between the biparietal diameter and the frontal lobe distance (R2 = 0.95; p less than 0.0001), between the biparietal diameter and the thalamic frontal lobe distance (R2 = 0.90, p less than 0.0001), and between the frontal lobe distance and the thalamic frontal lobe distance (R2 = 0.92, p less than 0.0001). The relationships between femur length and frontal lobe distance (R2 = 0.89, p less than 0.0001) and between the femur length and the thalamic frontal lobe distance (R2 = 0.945, p less than 0.0001) were also evaluated. Nomograms for the relationships between gestational age and frontal lobe distance and thalamic frontal lobe distance were generated and included the mean +/- SD and the percentile distributions. Growth of the frontal lobe was best described by a first-degree linear equation. The results of this study demonstrate the pattern of growth of the frontal lobe and the high rate of correlation between growth of the frontal lobe and the gestational age and the biparietal diameter. These findings offer a potential method by which the decreasing size of the frontal lobe, as shown in three cases described herein, can be evaluated prenatally and thus serve as a useful tool in the prenatal diagnosis of microcephaly.
Authors make a report concerning a male patient who presents microcephaly, oculocutaneus albinism, hypoplasia of the distal phalanx of the 1st, 3rd and 4th finger of the right hand, 1st, 3rd, 4th and 5th finger of the left hand and agenesia of the distal end of the big toe of the right foot. They think it is a new dysmorphic syndrome. Because of patient's sister presented a similar picture they suggest that it may be an autosomal recessive inheritance pattern.
Neonatal rats were reared using an artificial feeding technique from postnatal day 4 through 18. On Postnatal Days 4 through 7, corresponding to the onset of the brain growth spurt, some animals were administered either ethanol or tertiary butanol in the milk formula, with the remaining animals serving as controls. The alcohol dosages were equated to each other by membrane to buffer partition coefficients. Following the 4 day alcohol exposure, all animals were given the plain milk formula until Day 18, when they were decapitated and various organ weights measured. The only significant weight differences between alcohol-exposed animals and controls were absolute brain weights and brain weight/body weight ratios, which were decreased in both alcohol groups. Biochemical analysis of the brains showed similar DNA levels for the ethanol, tertiary butanol, and control group forebrain samples. Both alcohol groups had significantly lower DNA levels than the control group for the hindbrain samples. Cholesterol levels and cholesterol/DNA ratios indicated that ethanol, but not tertiary butanol, impaired myelination and/or arborization. Total protein and protein/DNA ratios suggested that ethanol interfered with protein production and/or incorporation. The tertiary butanol animals did not show this deficit. The results imply that while exposure to either alcohol during the brain growth spurt can lead to microcephaly, the ethanol-induced alteration of myelin formation and protein production in neonatal brain tissue may be due to additional properties of ethanol.
In this report we describe a moderately mentally retarded female child with the association of Poland's anomaly and primary microcephaly with marked neuronal migration disturbances, cortical atrophy and white substance hypoplasia. This observation further supports the suggestion that the subclavian artery supply disruption sequence may be part of a broader event of interruption of the early embryonic blood supply also involving the cerebral arterial vessels.
A family showing dominant inheritance of microcephaly, short stature, congenital dislocation of the hips and dysmorphic features is described. Affected individuals have malar hypoplasia, prominent nasal root, beaked nose, short philtrum and simple ears. This facial appearance is very similar to that in the family reported by Bawle and Horton in 1989.
Report on a second family. The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, moderate to severe mental retardation, and cutaneous syndactylies of hands and feet. In addition, they show a mildly dysmorphic but apparently characteristic face. Radiologically, hands and feet demonstrate brachydactyly, metacarpals and metatarsals being the most severely affected. This observation confirms that this multiple congenital anomalies/mental retardation pattern is a distinct, probably autosomal recessively inherited entity.
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal dominant family. The boy was also severely mentally retarded in contrast to the usual mild mental retardation in AD-CDMMS. Furthermore he had hypertonia, dysmorphic features and low body weight, which are uncommon in AD-CDMMS. CDMMS is a rare disorder. We traced 18 reports on CDMMS including 10 families, 6 with horizontal transmission and 4 with vertical transmission. There are 8 reports and observations on isolated cases with CDMMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance, with a more severe clinical picture in the former but with quite variable inter- and intrafamilial expression. A review of the literature is given. The existence of autosomal recessive inheritance in families with so-called horizontal transmission is discussed as variable expression, reduced penetrance and germline mosaicism may also explain this condition. Careful (particularly ophthalmologic) examination of first degree relatives is necessary before genetic counseling is given.