Biomedical subjects

D Chitayat

Publications and source records attributed to D Chitayat.

At least 145 records · Page 8Linked to original sources

PubMed1989

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

We describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had "coarse" faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad clavicles, Hirschsprung "disease," and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1989

Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma.

We studied the structure and number of lymph vessels in 12 spontaneously aborted previable fetuses with posterior cervical cystic hygroma and generalized edema of variable origin (monosomy X, trisomy 21, trisomy 13, suspected Noonan syndrome, and lethal multiple pterygium syndrome) and compared them to 5 therapeutically aborted, apparently normal fetuses. We found that in the non-45,X fetuses with cystic hygroma and edema the lymphatic vessels at all studied sites were dilated and appeared increased in number. The 45,X fetuses had no recognizable lymphatic vessels in the edematous cutaneous tissue of the limbs, and only occasional dilated vessels in the wall of the nuchal cystic hygroma and in the lungs. These findings may be useful in differentiating between monosomy X and other conditions causing nuchal cystic hygroma in specimens in which the fetus was incomplete and/or cytogenetic study could not be done.

Aorta↗

PubMed1989

Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet.

Four patients with Prader-Willi syndrome, diagnosed in the neonatal period and followed during the first year of life, are reported. There were three males and one female. All four patients presented with hypotonia and distinct craniofacial dysmorphism. Prometaphase chromosome analysis showed interstitial deletion of 15q in all of them. The placentae and umbilical cords were examined in three of the patients and found normal. Electromyography done in the neonatal period suggested primary myopathy. Height, weight and head circumference were normal at birth in all patients. Hand and foot measurements showed normal size at birth and during the first year of life.

Anthropometry↗

PubMed1989

Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.

We describe 2 patients with unilateral facial and cerebral malformations consistent with encephalocraniocutaneous lipomatosis. The characteristic facial appearance seems to develop with age, possibly as a consequence of increased intracranial pressure. However, the clinical data suggest that this condition arises as a result of a disruption of cephalic neural crest and anterior neural tube.

Adolescent↗

PubMed1988

Congenital abnormalities in two sibs exposed to valproic acid in utero.

Neural tube, craniofacial, and other congenital abnormalities have been described in infants born to mothers with epilepsy who were treated with valproic acid (VPA) during pregnancy. The pathogenetic relationship between the congenital abnormalities and exposure to VPA is not clear. We describe 3 sibs born to a mother with epilepsy. Only the 2 sibs who were exposed to VPA in utero had certain of the characteristic craniofacial changes described in previous reports of children with similar exposure. In addition, the 2 affected children had other craniofacial and skeletal abnormalities which have not been reported previously as teratogenic sequelae of VPA exposure. Many of the minor anomalies present in the 2 affected patients resemble those observed in rhesus monkeys exposed to VPA in utero. This suggests that the abnormalities observed in the 2 children may have been a consequence of intrauterine exposure to VPA.

Abnormalities, Drug-Induced↗

PubMed1988

Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.

We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the "cardinal" manifestations of AGU, including developmental disabilities, progressive "coarsening" of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase(AGA) in cultured fibroblasts. With long term follow-up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro-orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.

Acetylglucosamine↗

PubMed1988

Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis.

We report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for the enzyme beta-glucuronidase and the DNA probes around the cystic fibrosis gene--pJ3.11 and metH. Both the beta-glucuronidase gene and the DNA probes pJ3.11 and metH were found in 2 copies in our patient, indicating that neither locus lies in the deleted segment.

Chromosome Deletion↗

PubMed1988

Juvenile galactosialidosis in a white male: a new variant.

We describe a 19-year-old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial "coarseness," corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane-bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both alpha-neuraminidase and beta-galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry-red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant.

Adult↗

PubMed1988

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.

We describe a 4-year-old boy with Russell-Silver syndrome (RSS) found to have hepatocellular carcinoma. The brother of this child also had manifestations of RSS. This is the third malignancy and the first hepatocellular carcinoma described in a patient with RSS. The coexistence of hepatocellular carcinoma and RSS may be completely fortuitous; however, the known association of liver cancer with growth abnormality and hemihypertrophy, findings also present in RSS, suggest that these disorders may be related.

Abnormalities, Multiple↗

PubMed1988

Role of prenatal detection of cardiac tumours in the diagnosis of tuberous sclerosis--report of two cases.

Tuberous sclerosis is an autosomal dominant disease with variable expression. Little is known about the intrauterine course of the disease and the fetal age at which specific abnormalities may be detected. The role of prenatal detection of cardiac tumours in the diagnosis of two fetuses at 28 and 32 weeks' gestation based on fetal echocardiography is discussed. The prenatal and postnatal course of the disease is described.

Adult↗

PubMed1988

Cold-induced abortion in paramyotonia congenita.

Paramyotonia congenita is a rare autosomal dominant disorder with complete penetrance. Its most typical clinical feature is the precipitation of active myotonia by exposure to cold. We report a case of cold-induced abortion in a woman with paramyotonia congenita.

Abortion, Spontaneous↗

PubMed1988

Prenatal diagnosis of asplenia/polysplenia syndrome.

Complex congenital heart disease with atrioventricular block was detected prenatally in two fetuses at 34 and 28 weeks' gestation. The spleen was not seen on ultrasonographic examination in either fetus, suggesting polysplenia/asplenia syndrome. Both infants died shortly after delivery and the autopsies confirmed this diagnosis. Recommendations for sonographic screening of the fetal spleen in cases of prenatal detection of complex heart disease or cardiac dysrhythmia are discussed.

Abnormalities, Multiple↗

PubMed1988

Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.

We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50% or more of affected infants; three points for features reported to occur in between 10% and 50% of affected individuals; and one point for features known to occur in less than 10% of infants with the disorder. Using the scoring system, we evaluated two cohorts of patients: those in whom a diagnosis of trisomy 18 was previously established (retrospective group) and those in whom the diagnosis was suspected but not yet proved (prospective group). The average score in the retrospective series (n = 25) was 96.7, and no patient scored less than 70. Twenty-two patients were evaluated prospectively; in all cases the presence or absence of trisomy 18 was correctly predicted. The average score in the 11 patients without trisomy 18 was 41.4, and all patients scored 60 or less. In the 11 patients confirmed to have trisomy 18, the average score was 94.3, with a range of 70 to 113. This scoring system is an accurate, reproducible method for predicting trisomy 18 in neonates with multiple congenital malformations.

Chromosome Aberrations↗

PubMed1987

Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome.

We present the clinical findings in two children with the Setleis bitemporal "forceps marks" syndrome. The striking features include the following: (1) bitemporal scarring, an anomaly that resembles forceps marks; (2) periorbital puffiness with wrinkling of the skin; (3) abnormalities of the eyebrows; (4) anomalies of the eyelashes; (5) flattening of the nasal bridge with a bulbous nasal tip; (6) increased mobility of the skin, associated with severely redundant facial soft tissue; and (7) normal growth and development. The evidence that suggests that this unusual syndrome is inherited in an autosomal recessive fashion includes the following: (1) seven of the patients have come from the relatively isolated towns of San Sebastian and Aguadilla in Puerto Rico; (2) two sets of affected siblings have been described, and, in both cases, the siblings' parents were normal; and (3) one of the children described herein is the product of a consanguineous mating. Although the pathogenetic mechanism is unknown, Setleis syndrome is clearly inherited as an autosomal recessive trait.

Chromosome Aberrations↗

PubMed1987

Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

Six cases of the McKusick-Kaufman syndrome (MKS), including two cases that were diagnosed prenatally, were studied. Review of the 54 previously described cases indicates that postaxial polydactyly and hydrometrocolpos in female patients are the hallmark features of this entity. Other manifestations, such as malformations of gastrointestinal, cardiovascular, and ophthalmic structures, occur less consistently. Affected children require careful medical follow-up. Recurrence of hydrometrocolpos following surgical repair may lead to serious sequelae, such as chronic renal failure. We believe that MKS is a distinct panethnic genetic entity, inherited in an autosomal recessive fashion, and that the diagnosis should be made only in female patients with hydrometrocolpos and polydactyly or in male patients with polydactyly who have an affected female relative.

Female↗

PubMed1987

Ring chromosome 6: report of a patient and literature review.

A patient with ring chromosome 6 had most of the manifestations previously reported in this syndrome and also had albinoid fundi and unilateral aniridia, findings not previously described. In most peripheral leukocyte metaphases analyzed, one chromosome 6 was replaced by a monocentric ring chromosome with deletion of the 6p and 6q. Fifteen other patients with a ring chromosome 6 have been reported. The most frequent findings were mental retardation, prenatal and postnatal failure, epicanthal folds, flat nasal bridge, short neck, apparently low-set and/or malformed ears, microphthalmia, and micrognathia. Studies of coagulation Factors XII and XIII and of the P blood group for possible assignment on distal 6p and 6q did not provide evidence for localization of the genes for these factors on the pter----p24 part of chromosome 6.

Chromosome Aberrations↗

PubMed1987

Elevation of serum beta-hexosaminidase and alpha-D-mannosidase in type 2 Gaucher disease: a clinical and biochemical study.

We report a case of a black infant who died at 9 months of age with clinical and pathological findings consistent with the acute neuronopathic form of Gaucher disease (Type 2). Analysis of peripheral blood platelets obtained from this child demonstrated very low levels of beta-glucosidase activity. beta-hexosaminidase (HEX) activity in the serum, however, was 30 times greater than the level in control sera and 15 times greater than the level observed in individuals affected with the chronic form of Gaucher disease (Type 1). Similarly, alpha-D-mannosidase (MANN) activity in the proband's serum was significantly elevated when compared with controls, and chronic Gaucher disease patients. We postulate that the cause of the elevation of these lysosomal enzymes is similar to the cause of elevation in Type 1 individuals but that patients with Type 2 Gaucher disease have a more serious cellular defect.

Blood Platelets↗

PubMed1987

Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review.

Two siblings with a partial duplication 16q, born to a woman with a balanced translocation (6;16), are described. The first infant died at 8 weeks of age; the second died at 4 months. Fifteen other cases of duplications involving 16q have been reported, all of them derived from a balanced parental translocation. The most frequent physical findings have included dysmorphic facies characterized by high forehead, prominent nose, antimongoloid slant, malformed ears, and micrognathia, as well as flexion contractures of the joints, deformity of the feet, and genital hypoplasia in the male. Anorectal, intestinal and cardiac malformations were less frequent findings. Most of the affected infants died at ages ranging from 8 days to 6 months. The few with longer survival (up to 6 years) had a shorter, more distal segment duplication of chromosome 16. Although intrauterine growth retardation and microcephaly were not always present at birth, most of the infants had postnatal growth failure. The phenotypic and clinical findings of the two infants in this report are compared with those of previously reported cases, from which there appears to be correlation of the length of the 16q duplication with clinical phenotype and survivals.

Abnormalities, Multiple↗