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Biomedical subjects

N L Rudd

Publications and source records attributed to N L Rudd.

At least 19 recordsLinked to original sources
PubMed1979

Partial trisomy 20 confirmed by gene dosage studies.

We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial appearance, and minor skeletal anomalies, all very suggestive of the partial trisomy 20(p) syndrome. Although she was born to karyotypically normal parents, she had an extra small metacentric chromosome. Analysis of metaphase and prometaphase chromosomes by GTG banding and Giemsa 11 staining showed that the extra chromosome was a number 20 with a deletion of the distal end of the long arm. Gene dose studies of adenosine deaminase (ADA) and inosine triphosphatase (ITP) supported the cytogenetic interpretation.

Abnormalities, Multiple↗
PubMed1979

Maxillonasal dysplasia (Binder's syndrome).

Eleven patients with Binder's syndrome (nasomaxillary hypoplasia) have been treated by the Toronto Craniofacial Team from 1972 to 1977. The treatment has consisted of onlay bone and cartilage grafts to the nose and perialar region for young children, or when the occlusion is normal. However, cases with severe malocclusion were treated by a Le Fort I and/or Le Fort II osteotomy when the children were older. When the malocclusion was less severe, interceptive orthodontics have been useful. The nose can be significantly lengthened and enlarged through a frontal craniotomy incision connected with an upper buccal sulcus incision, without any incision on the face.

Adolescent↗
PubMed1977

Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly.

This paper is the second part of a survey of 370 patients with craniosynostosis. It concerns 109 patients with coronal synostosis, with or without additional suture involvement who lacked polysyndactyly or syndactyly. Bilateral and unilateral coronal synostosis occurred with approximately equal frequency and there was an excess of males in both groups. Multiple suture involvements was frequent in patients with bilateral synostosis, but was uncommon in those with unilateral involvement. Those patients with bilateral synostosis and additional suture involvement were treated later than those with isolated bilateral synostosis and a possible explanation for this finding is discussed. Forty-seven percent of patients with bilateral synostosis had additional major malformations. Cardiac malformations were significantly more frequent than would be expected by chance. Thirty-five percent of patients with unilateral involvement had major malformations. Twenty-six percent of those with bilateral and ten percent of those with unilateral synostosis were mentally retarded, but retardation was found to be associated either with increased frequency of major malformations or with a complex medical history. Mental retardation is uncommon in simple, uncomplicated coronal synostosis. Twelve of the 104 families showed a positive family history; nine with vertical and three with horizontal transmission. An admixture of unilateral and bilateral suture involvement was the rule, and families with involvement limited to unilateral synostosis did not occur. Certain patterns of characteristic familial minor malformation, particularly of the hands, allow recognition of a number of these familial cases. The recurrence risks for coronal synostosis are discussed.

Abnormalities, Multiple↗
PubMed1977

A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.

This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less frequently. Expression was variable and parents who were in the direct vertical line of transmission of the syndrome showed few, if any, overt signs of the disease. However, the metacarpal/phalangeal profile of the parents showed a similar pattern to that seen in the affected individuals, and it is suggested that this profile may be the most sensitive indicator of carrier status.

Adolescent↗
PubMed1977

The natural history of aminopterin-induced embryopathy.

A boy whose mother ingested aminopterin to induce abortion and who has the characteristic anomalies caused by fetal exposure to this drug, has been followed for 12.75 yr. Despite short stature, his growth velocity is normal, and both normal endocrine studies and a radiologic bone age, retarded consistently between 2.25 and 3.0 yr, allow a predicted adult height of over 150 cm. Intelligence testing has shown a rise in full scale IQ on the Wechsler Intelligence Scale from 64 to 80 with performance increasing from 70 to 92. Psychologic assessment suggests potential for self-support in adult years.

Abnormalities, Drug-Induced↗
PubMed1976

Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).

The clinical and genetic findings in 214 patients with sagittal synostosis are described. Seventy-three per cent of the patients were male. Children with sagittal synostosis were treated earlier than those with coronal synostosis. Major malformations occurred in 22%, and 8.9% were mentally retarded. The retardation was clearly unrelated to the synostosis in almost half the patients. The remaining retarded patients had a significantly lower mean birth weight, higher frequency of malformations, and later age at operation than the control group. We believe the late age at operation was due to bias in the ascertainment of this group of retarded children, and that sagittal synostosis was simply one of a number of malformations that can occur in children with intrinsic retardation. Familial data and the skull measurements of a sample of parents of affected children were compatible with multifactorial inheritance; however there is need for prospective family studies and parental measurements on ethnically uniform groups.

Adolescent↗
PubMed1976

The genetics of and associated clinical findings in humero-radial synostosis.

This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero-radial synostosis with the aim of determining ways of separating these forms on clinical grounds. The genetic forms are characterized by bilateral involvement and by lack of the distal ulnar malformations and the absence of digits that are common in the sporadic cases. The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency of malformations in addition to those of the limbs. Consanguinity is frequent in the families of recessive cases. Four additional patients are presented; two of them illustrate many of the features of the phocomelic syndrome reported by Herrmann et al. (1969). A possible teratogenic cause of these cases is discussed.

Abnormalities, Multiple↗