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PubMed1979

Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: a study of four individuals in two families.

We have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial duplication of chromosome 1q and possible deletion 18p. In both families the mothers and several relatives were carriers of the balanced translocation rcp t(1;18) (q42;p11). The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities. Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.

Abnormalities, Multiple↗

PubMed1980

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern of abnormalities. Both had severe mental retardation, macrocephaly, absence of the corpus callosum, unusual facial appearance, duplication of hallucal phalanges, postaxial hexadactyly of finger phalanges, and 2/3-syndactyly of toes. The boy also had postaxial hexadactyly of toe phalanges, inguinal hernias and umbilical hernia, and growth retardation. We suspect a common cause of this apparently "new" syndrome, most likely a gene mutation.

Abnormalities, Multiple↗

PubMed1984

An anthropometric study of males with the fragile-X syndrome.

Anthropometric methods were used to examine 18 males 18 to 69 years old with the Fragile-X syndrome. Thirteen of 15 subjects had macroorchidism. The average height of the individuals with the Fragile-X was less than that of published standards. Seventeen of the 18 subjects had absolute or relative macrocephaly, and two-thirds of the subjects were dolichocephalic. For the group as a whole, facial and ear lengths were increased, and facial breadth, hand length, and foot length were decreased. It is suggested that relationships between various measurements of an individual may be more important than any single measurements for conveying the characteristic appearance of an individual with the Fragile-X syndrome.

Adolescent↗

PubMed1984

A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome.

Four patients with the Ruvalcaba-Myhre-Smith syndrome (primary macrocephaly with associated anomalies including pigmented macules on the penis in affected males, hamartomatous intestinal polyps, and lipomas) had evidence of delayed psychomotor development and/or hypotonia in childhood. Electromyography in 3 patients showed evidence of a myopathic process. Muscle biopsy in all four demonstrated a lipid storage myopathy with increased numbers of neutral lipid droplets--predominatly in type 1 fibers. The type 2 fibers were consistently smaller than expected. Electron microscopy was unremarkable except for evidence of lipid accumulation. Muscle carnitine and carnitine palmityl transferase levels were normal in one patient. This appears to be a previously unreported type of lipid storage myopathy characteristic of the Ruvalcaba-Myhre-Smith syndrome, a probable autosomal dominant trait.

Adult↗

PubMed1985

A new X-linked mental retardation syndrome.

We have studied a three-generation family with 11 moderately to severely retarded males and three mildly retarded females (presumably manifesting carriers). The patients have a phenotype different from that of all other previously described types of X-linked MR (XLMR). These include short stature, macrocephaly, "coarse" facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism (volume greater than 25 ml). Chromosomes were normal including fragile X analysis. X-ray findings of skull, spine, and hands were normal. The intellectually normal relatives do not resemble their affected relatives except for increased head size and testicular size. These findings suggest a new variant of XLMR different from fragile X-linked MR, the Coffin-Lowry syndrome, and other XLMR conditions.

Dentition↗

PubMed1985

The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.

The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes. Occasionally other skeletal or nonskeletal defects are present. This is an autosomal dominant trait with complete penetrance and variable expressivity. Prognosis for mental and physical development of the affected patients is good, surgery being indicated primarily for aesthetic and functional correction of polydactyly and syndactyly. We report on a Brazilian family in whom the mother and two of three sons were affected.

Abnormalities, Multiple↗

PubMed1985

Neurofibromatosis and fragile-X syndrome in the same patient.

We report on an 11 1/2-year-old boy with neurofibromatosis and the fragile-X syndrome. Clinical manifestation of neurofibromatosis include multiple cafe-au-lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile-X syndrome manifests itself as mental retardation with behavior problems, macro-orchidism, and specific cytogenetic findings. The boy has normal serum hormone levels, but a greatly elevated FSH on a first morning void, which contains the nocturnally secreted gonadotropins. This seems to be the first reported occurrence of the fragile-X syndrome with another inherited disease.

Child, Preschool↗

PubMed1987

Megalocornea and mental retardation syndrome: two new cases.

We report on 2 patients with the Neuhäuser megalocornea-mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 minimal diagnostic criteria. Short stature, seizures, neurological symptoms, microcephaly or macrocephaly, and minor anomalies are all additional nonobligatory manifestations. The small number of published cases may be due to the fact that the association of these two signs has often escaped attention until now.

Child↗

PubMed1987

Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?

We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.

Abnormalities, Multiple↗

PubMed1987

Severe proteus syndrome in an 18-month-old boy.

We describe an 18-month-old Greek boy with macrocephaly, partial gigantism of hands and feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the Proteus syndrome. Cerebral involvement in a most severe form and at an early age concurs with the suggestion that encephalocraniocutaneous lipomatosis may represent a more circumscriptive manifestation of Proteus syndrome. Localized triggering of several growth factors is a challenging pathogenetic consideration of the syndrome.

Bone Diseases↗

PubMed1987

The CFC syndrome--report of the first two cases outside the United States.

We report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.

Abnormalities, Multiple↗

PubMed1987

Clinical variability of partial duplication 1q: a clinical report and literature review.

A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t(1;18)(q25;p11). Her chromosome constitution was 46,XX,-18,der18,t(1;18)(q25;p11)pat, namely, partial duplication 1q25----qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.

Abnormalities, Multiple↗

PubMed1987

Newborn infant with del(9)(pter----q32:) and multiple congenital anomalies including arrhinencephaly, cardiac malformations, and rudimentary ears.

A deletion of the long arm of chromosome 9(pter----q32:) in a newborn infant at 38 weeks of gestation was associated with a syndrome of arrhinencephaly, rudimentary ears, hypoplastic lungs and ureters, redundant nuchal skin folds, and congenital heart defects. Other findings included a Sydney line, macrocephaly, talipes equinovarus, oligohydramnios, and amnion nodosum. Detailed pathologic observations and the chromosome abnormality are described.

Abnormalities, Multiple↗

PubMed1988

Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?

We report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypotonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.

Female↗

PubMed1988

Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

Abnormalities, Multiple↗

PubMed1989

Diagnostic criteria for Walker-Warburg syndrome.

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations. We reviewed data on 21 of our patients and an additional 42 patients from the literature. From this review, we expand the phenotype to include congenital muscular dystrophy (CMD) and cleft lip and/or palate (CLP), and revise the diagnostic criteria. Four abnormalities were present in all patients checked for these anomalies: type II lissencephaly (21/21), cerebellar malformation (20/20), retinal malformation (18/18), and CMD (14/14). We propose that these comprise necessary and sufficient diagnostic criteria for WWS. Two other frequently observed abnormalities, ventricular dilatation with or without hydrocephalus (20/21) and anterior chamber malformation (16/21), are helpful but not necessary diagnostic criteria because they were not constant. All other abnormalities occurred less frequently. Congenital macrocephaly with hydrocephalus (11/19) was more common than congenital microcephaly (3/19). Dandy-Walker malformation (10/19) was sometimes associated with posterior cephalocele (5/21). Additional abnormalities included slit-like ventricles (1/21), microphthalmia (8/21), ocular colobomas (3/15), congenital cataracts (7/20), genital anomalies in males (5/8), and CLP (4/21). Median survival in our series was 9 months. A related autosomal recessive disorder, Fukuyama congenital muscular dystrophy, consists of similar but less severe brain changes and CMD. It differs from WWS because of consistently less frequent and severe cerebellar and retinal abnormalities. We think that WWS is identical to "cerebro-oculo-muscular syndrome" and "muscle, eye, and brain disease."

Brain↗

PubMed1989

Acrocallosal syndrome in a girl born to consanguineous parents.

The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.

Abnormalities, Multiple↗

PubMed1989

Acrocallosal syndrome: additional manifestations.

The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation. This patient had characteristics of the ACS but also had a severe congenital heart defect and other visceral malformations. After comparing the ACS with and contrasting it to other disorders, we concluded that the internal organ abnormalities found in this patient probably represent further manifestations of the ACS.

Abnormalities, Multiple↗