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Biomedical subjects

A E Lin

Publications and source records attributed to A E Lin.

At least 55 records · Page 3Linked to original sources
PubMed1991

The branchio-oculo-facial syndrome.

We review 13 reported cases and add the evaluations of 2 new patients with the branchio-oculo-facial (BOF) syndrome, a recently delineated autosomal dominant disorder with highly variable expression. This condition has a distinctive phenotype with characteristic craniofacial abnormalities consisting of aplastic or hemangiomatous cervical skin lesions with or without branchial sinuses; malformed, rotated auricles; and ocular abnormalities, which include microphthalmia or anophthalmia, coloboma, and cataract. The term pseudocleft has been used to describe the upper lip and philtrum abnormality found in mild cases, but the expression may extend to that of a complete cleft lip and palate. This unique disorder may go undetected in patients followed in cleft palate or craniofacial clinics and may not be recognized in patients with mild expressions. Genetic counseling for affected individuals is imperative because of the 50 percent recurrence risk. We emphasize the multidisciplinary care required to correct their craniofacial anomalies.

Branchial Region↗
PubMed1990

Central nervous system malformations in the CHARGE association.

Of 144 patients with the CHARGE association (literature 136, new patients 8), 47 (33%) had either a postmortem examination (30) or computerized axial tomography scan (17) of the head. Twenty-six of 47 (55%) had definite central nervous system (CNS) malformations; arhinencephaly, with or without other defects (11), holoprosencephaly (2), holoprosencephaly with arhinencephaly (1), other forebrain defects (3), hindbrain defects (3), or other defects (6). The presence of CNS malformation was most strongly associated with choanal atresia. This review demonstrates a predominance of forebrain anomalies, particularly arhinencephaly and holoprosencephaly, which may provide a clue to the mechanism of abnormal morphogenesis involved in CHARGE association.

Abnormalities, Multiple↗
PubMed1990

Absent aortic valve: a complex anomaly.

Seven patients (four previously cited and three new cases) with absent aortic valve cusps (leaflets), a rare and underrecognized complex congenital heart defect, are discussed. All patients were male, six full-term and one premature with nonimmunologic hydrops. None underwent operation; all died within the first week of life from low cardiac output and hypoxemia. In most instances, the only remnant of the aortic valve was a nonobstructive fibrous ridge; occasionally, it was accompanied by rudimentary leaflets or sinuses of Valsalva. Absent aortic valve was associated with other significant structural malformations in all instances, including atrioventricular valve atresia, hypoplasia or dysplasia, less commonly double outlet right ventricle, abnormal pulmonary venous connection, or left ventricular endomyocardial abnormalities. Recognition of this unusual lesion is important since it is associated with other complex malformations, causes hypoxemia (for which early positive pressure ventilation is indicated), and could be possibly palliated using the right ventricle as the systemic ventricle.

Aortic Valve↗
PubMed1990

Persistent hyperplastic primary vitreous with vertical transmission.

The authors report a 15-month-old white male and his 30-year-old mother who both have persistent hyperplastic primary vitreous (PHPV) unassociated with other congenital anomalies. Although there are two previous reports of PHPV in siblings suggesting autosomal recessive inheritance, this is the first report compatible with autosomal dominant inheritance.

Adult↗
PubMed1990

Congenital heart defects in malformation syndromes.

This article presents a comprehensive review of the type and frequency of congenital heart defects found in malformation syndromes which have been categorized by etiology. Certain cardiac phenotypes can be as helpful in identifying certain syndromes as can be seen with the more familiar facial, body, and behavioral phenotypes. An awareness of syndromes with a higher risk of congenital heart defect, and knowledge concerning heart defects which are distinctive for certain syndromes, focuses prenatal diagnosis efforts and fetal echocardiography. By using a mechanistic classification in which congenital heart defects are regarded as families of related defects rather than individual lesions, patterns can be recognized among different syndromes.

Abnormalities, Multiple↗
PubMed1988

Monozygotic Turner syndrome twins--correlation of phenotype severity and heart defect.

We report on monozygotic twins with Turner syndrome (45,X) with discordant phenotypes. One twin had severe neck webbing and extremity edema and died of severe coarctation of the aorta. The other twin had fewer craniofacial anomalies and no congenital heart defect, suggesting a pathogenetic relationship between cardiac abnormality and phenotype severity.

Diseases in Twins↗
PubMed1988

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.

We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.

Abnormalities, Multiple↗