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Biomedical subjects

S K Clarren

Publications and source records attributed to S K Clarren.

At least 73 records · Page 4Linked to original sources
PubMed1981

Brief clinical report: the del(4) (q31) syndrome- a recognizable disorder with atypical Robin malformation sequence.

Deletions of the terminal region of the long arm of chromosome 4 have been reported previously in 6 patients. With the addition of our patient with 46,XX,del(4) (pter leads to q31:), it becomes clearer that this is a recognizable syndrome. None of the 7 patients has had prenatal growth deficiency, while postnatal growth deficiency has been variable. The syndrome is typified by a Robin malformation sequence without apparent catch-up growth of the mandible, anomalous auricles, a short nasal septum with a depressed nasal bridge, absent 5th finger creases, clinodactyly, and displacement of the toes. Mental retardation has been found consistently.

Chromosome Deletion↗
PubMed1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congenital heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8-month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.

Anus, Imperforate↗
PubMed1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations.

Unusual and virtually identical hypothalamic tumors were recently studied in three unrelated neonates with a similar complex malformation syndrome. Previous reports of either the hypothalamic tumors or the syndrome as a whole have not been found. Each tumor was apparent on the inferior surface of the cerebrum and extended from the optic chiasma to the interpeduncular fossa. The tumor replaced the hypothalamus and other nuclei which originate in the embryonic hypothalamic plate; it was principally composed of cells resembling primitive, undifferentiated germinal cells. The term "hamartoblastoma" is used to designate these tumors in order to emphasize the malformational and neoplastic aspects. In addition, short olfactory tracts suggest a relation to the arrhinencephaly field defect.

Anus, Imperforate↗
PubMed1980

Craniosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins.

A set of like-sexed male twins with the same malformation syndrome and exhibiting identical anomalous alterations of the craniofacial complex were studied in detail. The right and left coronal and left lamboidal sutures were prematurely synostosed in both specimens. The cranial base exhibited a mediolateral asymmetry, with the right half larger than the left. The occipital bone demonstrated the greatest abnormality, including bilateral clefting of the basioccipital component and alterations in the size and shape of the exoccipital bone. In lateral view, the cranial base was flattened and the ventral flexure occurred between the two components of the basioccipital. The odontoid process of the second cervical vertebra was rotated anteroinferiorly and formed part of the cranial floor. Histologically, the bilateral clefts of the basioccipital bone were united by fibrous connective tissue, and the central area of union contained chondroid-like bone. The cartilaginous spheno-occipital synchondrosis and the epiphyseal cartilage of the finger demonstrated similar dystrophic alterations. The brain was normal but exhibited external cerebral deformation secondary to aberrant skull shape.

Abnormalities, Multiple↗
PubMed1979

Helmet treatment for plagiocephaly and congenital muscular torticollis.

Plagiocephaly usually originates in late fetal life through aberrant constraint of the fetal head and is often associated with sternocleidomastoid torticollis. In some patients the obligue head shape may become a permanent, cosmetic disability. Individually fitted plastic helmets, similar in style to football helmets, have been successfully used to remold the deformed heads of four infants. Each helmet is designed to fit snugly against the prominent aspects of the infants' cranium and to be loose fitting where the head is shallow. As the brain grows, the head is molded to fit the helmet and thus acquires a more usual shape. The treatment has been safe and effective. When torticollis is persistent after the initiation of treatment, rubber straps can be fixed to the outside of the helmet and attached to the side rails of the crib. While the infant sleeps, the straps can be tightened to stretch the shortened sternocleidomastoid muscle.

Casts, Surgical↗
PubMed1978

Brain malformations related to prenatal exposure to ethanol.

Microcephaly and mental retardation have been principal features of the fetal alcohol syndrome. This article describes the neuropathologic findings in four human neonates who were exposed to large quantities of ethanol at frequent intervals during gestation. The findings suggest that intrauterine exposure to ethanol can result in structural abnormalities of the brain. All four brains displayed similar malformations stemming from errors in migration of neuronal and glial elements. Hydrocephalus was one consequence of the malformations in two of the infants. Futhermore, the brain alterations may be the only distinct abnormality produced by in utero ethanol exposure. Only two of the four subjects were diagnosed as having the fetal alcohol syndrome from external criteria.

Abnormalities, Drug-Induced↗
PubMed1978

Hyperthermia as a possible teratogenic agent.

Hyperthermia has been shown to be a teratogenic agent in a number of animal species. We have attempted to determine if maternal hyperthermia during early gestation might also be responsible for problems in human development. Eight retrospectively ascertained cases, in which high fever had occurred at four to six weeks' gestation, revealed a similar clinical phenotype in the infants despite the fact that the maternal fever was caused by different infections. The most consistent manifestations were severe mental deficiency, seizures, hypotonia, microphthalmia, midface hypoplasia, and mild impairment of distal limb development. In five patients exposed to hyperthermia at seven to 16 weeks' gestation, predominant features were hypotonia, neurogenic arthrogryposis, and central nervous system dysgenesis. The cause of fever differed in each of these cases; in one, a patient with neurogenic arthrogryposis, the hyperthermia had been induced in a sauna bath. No apparent serious problem in morphogenesis was found following hyperthermia during the latter half of gestation. These findings are similar to those resulting from induced hyperthermia in animals. Further research on the effects of hyperthermia in the developing human being seems warranted.

Abortion, Spontaneous↗
PubMed1977

Prader-Willi syndrome. Variable severity and recurrence risk.

The families of 39 patients with Prader-Willi syndrome were examined for similarly affected individuals. The pertinent findings include (1) one sibling more profoundly affected than the patients usually described, (2) one first cousin more mildly affected than usual, (3) a suggestive history of increased frequency of spontaneous late miscarriage (17%) from the mothers of affected offspring, and (4) an occurrence rate of 1.6% in proband siblings.

Adolescent↗
PubMed1977

Congenital deformities.

Forty years ago Denis Browne wrote that the medical world was ignoring an important distinction among birth defects. There were, he said, a large group of abnormalities caused not by genetic errors or teratogens but simply by fetal constraint. These abnormalities, if recognized early, could be readily ameliorated with simple, conservative forms of therapy. Today the full range and frequency of deformations are still not well appreciated and yet the recognition of these deformities may be more important than ever. The public is becoming increasingly aware of environmental hazards and genetic risks to their unborn children. They know of the difficult problems faced by families when malformed children are born. The physician who can rapidly and accurately diagnose deformities treats a good deal more than the problems of aberrant fetal molding.

Biomechanical Phenomena↗
PubMedDate not supplied

Magnetic resonance imaging and spectroscopy in fetal ethanol exposed Macaca nemestrina.

Magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-MRS) offer noninvasive ways to observe structural and biochemical changes which might serve as valuable diagnostic markers for detecting brain damage from prenatal ethanol teratogenesis. Cranial MR imaging and spectroscopy were performed on 20 nonhuman primates (Macaca nemestrina) with known prenatal ethanol exposures and well-documented cognitive and behavioral levels of performance. The choline: creatine ratio detected by 1H-MRS in the brain increased significantly with increasing duration of in utero ethanol exposure. These signal alterations occurred in the absence of gross structural brain anomalies (detectable by MRI) and were significantly correlated with alcohol-related cognitive and behavioral dysfunction. These observations are consistent with reports of elevated choline: creatine ratios associated with various neurologic insults and disease states. The association observed between brain choline:creatine ratios and in utero ethanol exposure suggest a role for 1H-MRS in elucidating mechanisms of ethanol teratogenicity.

Analysis of Variance↗