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Biomedical subjects

J W Hanson

Publications and source records attributed to J W Hanson.

At least 55 records · Page 3Linked to original sources
PubMed1981

Chorioretinopathy and pituitary dysfunction. The CPD syndrome.

Four reports of a rare syndrome characterized by severe, early-onset chorioretinopathy, trichosis, and evidence of pituitary dysfunction are reviewed. Recently obtained follow-up information about these four patients is presented. A new example of this disease, the fifth case to be reported, to our knowledge, is described.

Adolescent↗
PubMed1981

Deletions of different segments of the long arm of chromosome 4.

We report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a horter terminal deletion, ie, 4q33 leads to qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal-deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1 leads to q25, 4q21.3 leads to q26, and 4q27 leads to q31.3. The phenotypic expression noted in these patients is variable in differs from the 4q terminal-deletion syndrome.

Abnormalities, Multiple↗
PubMed1980

Partial 8p- syndrome.

A terminal deletion in the short arm of chromosome 8 (:p21 leads to qter) was found in a two years old girl with dysmorphic craniofacial features and developmental retardation. Clinical features are compared with previously published cases and suggest a recognizable syndrome.

Child, Preschool↗
PubMed1979

Oculodentodigital dysplasia. Four new reports and a literature review.

Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia, and (6) trichosis. Echographic studies indicate that ODD globes have microcornea with otherwise normal dimensions. An increased number of vessels crossing the optic discs was observed in three patients from one family. The distance between the inner canthi and the medial orbital walls in three patients we studied suggests that previous reports of hypertelorism may have been illusions resulting from microcornea, small palpebral fissures, and variably present epicanthus.

Adolescent↗
PubMed1979

The Summitt syndrome: observations on a third case.

A 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current data support autosomal recessive inheritance, although X-linkage cannot be excluded.

Child↗
PubMed1979

Pentasomy X with multiple dislocations.

We describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. Our patient is the first to present hypoplasia of the glenoid process with consequent should dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed.

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↗
PubMed1979

Fetal injury with midtrimester diagnostic amniocentesis.

One hundred seven infants born after midtrimester amniocentesis were examined. The frequency of fetal injury was 9%, and was directly related to the number of attempts at amniocentesis. All were minor cutaneous injuries except for 1 case of disruption of a patellar tendon. Suggestions are made regarding ways to reduce the incidence of fetal puncture.

Adult↗
PubMed1978

The effects of moderate alcohol consumption during pregnancy on fetal growth and morphogenesis.

Information on fetal hazards arising from moderate or low levels of maternal alcohol consumption is unavailable in man. In order to study this question an unselected group of pregnant women was interviewed during pregnancy regarding their alcohol intake. At the time of delivery pairs of high-risk and control infants were examined without knowledge of maternal drinking history. Of 163 infants examined, 11 were judged clinically to show signs compatible with a prenatal effect of alcohol on growth and morphogenesis. Nine of these 11 came from the high-risk drinking group. Only two of these infants were classified as having the fetal alcohol syndrome, and each of the mothers was a very heavy drinker. The other seven infants, who showed lesser alterations of growth and morphogenesis suggestive of fetal alcohol syndrome, were born to women who reported drinking an average of one ounce or more of absolute alcohol per day in the month prior to recognition of pregnancy. These results indicate that both moderate and high levels of alcohol intake during early pregnancy may result in alterations of growth and morphogenesis in the fetus.

Alcohol Drinking↗
PubMed1978

Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35).

We describe a patient with partial trisomy 3p resulting from maternal translocation, t(3:4)(p23;q35). The male newborn who died at the age of 22 hours presented with distinct facial features including a square-shaped face with prominent forehead and depressed temporal regions, prominent cheeks, short broad nose, left cleft lip and cleft palate, malformed ears, and a receding mandible. Further findings were flexion deformities of the fingers with finger-like thumbs and mild cutaneous syndactyly 2/3 and 4/5, hypoplastic penis and scrotum with no palpable testes. He probably had a congenital heart defect and situs inversus abdominalis. Many of these features have been reported in other patients with distal trisomy 3p.

Abnormalities, Multiple↗
PubMed1977

Subtotal neonatal calvariectomy for severe craniosynostosis.

This report sets forth an example of a new mode of management of severe craniosynostosis in the neonate: subtotal calvariectomy. An infant with synostosis of sagittal, coronal, and lambdoidal sutures who had signs of increased intracranial pressure with impending neurologic complications was operated on at 13 days of age. Wide excision of the bony calvarium from the underlying dura was accomplished from the supraorbital ridge to near the foramen magnum; the entire area of the coronal sutures was included. Regeneration of the calvarium occurred over two to 12 weeks and was accompanied by the presence of "sutures" in a usual location. These procedures have allowed for normal brain growth without reoperation up to the current age of two years. Neurologic and intellectual performance has been satisfactory, and cosmetic results appear to be preferable to those obtained by more limited surgery. The observations suggest that this approach may permit better craniofacila growth by minimizing secondary deformities in growth of the cranial base.

Child, Preschool↗
PubMed1977

Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.

A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature. Although craniosynostosis is either lacking or relatively mild in the members of this family, their features are otherwise strikingly similar to those of patients with the Saethre-Chotzen syndrome. We believe the findings in this family indicate that the Saethre-Chotzen syndrome comprises a broad pattern of carniofacial and other skeletal malformations in which craniosynostosis may sometimes occur.

Acrocephalosyndactylia↗