Partial deletion of the long arm of chromosome 11: ten Japanese children.

The clinical features of partial deletion 11q were correlated with the size of the deleted region. Ten Japanese children with partial deletion of 11q were investigated. They were divided into three groups. Three patients in the first group had interstitial deletions and preserved subband q24.1. Six patients in the second group demonstrated terminal deletion of 11q including subband q24.1, with typical features of 11q- syndrome (Jacobsen syndrome). The third group included only one patient, who had terminal deletion of 11q without characteristics of typical 11q- syndrome. Prominent features of patients in the first group included severe mental and motor developmental delay, seizures, cleft lip and palate, and ophthalmological findings. Patients in the second group showed mild to moderate developmental delays without deterioration. Abnormalities in neuroimages, high intensity in the cerebral white matter in T2-weighted magnetic resonance (MR) images, and recurrent infections were not observed after the age of 7 years. The subject in the third group, with the smallest amount of deleted chromosome, did not show developmental delays, suggesting that some unknown genes related to developmental delays may be located adjacent to subband q24.1. Variation in the deleted parts of 11q resulted in different clinical features in each group.

Clitoroplasty for clitoromegaly due to adrenogenital syndrome without loss of sensitivity.

For preservation of postoperative sensitivity of the glans clitoris, clitoroplasty for clitoromegaly due to adrenogenital syndrome is reported. The operative technique includes the removal of ventral corporal tissue, taking care to avoid damage to the dorsal neurovascular bundle. A small lump of glandular tissue, which is connected with the neurovascular bundle, is left over and affixed to the pubic bone. Postoperative appraisal of patients in whom this technique has been applied is satisfactory. However, precise assessment of glandular sensation is not possible because of the patients' young ages. Follow-up investigation at puberty is necessary for a final, proper appraisal.

Cleft lip repair by soft-tissue expansion.

I report herein a newly devised method of cleft lip repair that involves the expansion of cheek skin by tissue expander and transferring the scar from the philtrum to the nasolabial fold, or reducing a broad scar to a finer and less conspicuous one without leaving tension. The method, having been applied in three patients with good results, is thereby recommended for patients with severe cleft lip deformity wherein a tight lip is present.

An infant with Crouzon's syndrome with a cartilaginous trachea and a human tail.

Due to abnormal three-dimensional growth of facial and skull bones, certain craniosynostosis syndromes are occasionally accompanied by nasopharyngeal stenosis. However, two cases of Crouzon's and Pfeiffer's syndromes have been reported in which respiratory distress was more severe, compared with the usual respiratory problems in craniofacial anomalies. In both cases, tracheal anomalies were present and manifested by a completely cartilaginous trachea, without rings. The author reports herein a case of Crouzon's syndrome accompanied by serious airway stenosis which was a problem both before and after surgery and a caudal appendage (human tail). The patient suddenly died at home 50 days postoperatively. Autopsy revealed that instead of having rings, the tracheal cartilage had a continuous tubular structure. The normal mucous membrane structure was absent, and squamous epithelization developed around the margins of the tracheostomy. When craniofacial anomalies are accompanied by severe respiratory disorder, physicians must be aware of a possible tracheal anomaly. There is a high probability of aggravated respiratory problems after surgery. There have been no reports in the literature of Crouzon's syndrome accompanied by a human tail.