An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifestations, and malformations of the heart in 50% of the living affected.

The first case of mitral stenosis in a patient with situs inversus was reported from this hospital in 1911 (Owen). We have found four reports of mitral valvotomy in such cases (Berkowitz and Likoff, 1954; Koshy et al., 1955; Naef, 1957; Michaud et al., 1959) and a fifth is reported here. Viscott (1960) collected some 900 previously reported cases of complete situs inversus and suggested that it...

1. Abstract 2. Introduction 3. Methods and Materials 3.1. Generation of the targeting vector 3.2. Electroporation, selection and screening of embryonic stem (ES) cells 3.3. Blastocyst injection and animal breeding 3.4. Isolation of RNA, Quantitative PCR and whole-mount in situ hybridization 3.5. Skeletal X-rays and staining 4. Results 4.1. Generation of Zic3 4.2. Upregulation of Zic3 expression...

We studied 16 patients suffering from osteoarthritis of the hip who had had Perthes' disease during childhood. They were compared clinically and radiologically with a control group who had not had Perthes' disease, in order to assess whether a generalised, pre-existing constitutional disorder was present. Nine patients with a previous history of Perthes' disease had some other skeletal abnormal...

CLOVES syndrome is a complex disorder of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis/spinal anomalies. We report the occurrence of spinal-paraspinal fast-flow lesions within or adjacent to the truncal overgrowth or a cutaneous birthmark in 6 patients with CLOVES syndrome.

Acromicric dysplasia is a skeletal dysplasia that is characterized by short stature, short hands and feet, typical facial dysmorphism, normal mental development, and characteristic hand radiology. Carpal tunnel syndrome may be seen in adults with acromicric dysplasia; however, to the authors' knowledge, it has not been reported in pediatric patients. This article describes a 9-year old boy with...

Asymptomatic symmetrical hyperphalangism of the fingers accompanied by foot anomalies is very rare. We present a 21-year-old man with anomalies in both hands and feet. He had short little, index, and middle fingers, long ring fingers, and clinodactyly of the little finger. He also had symmetrical brachydactyly of both feet. There were no other skeletal anomalies and his family members were norm...

Thirty-four cases (29 children and five adults) of congenital absence of the gall bladder were found in a retrospective necropsy study. When the distribution of associated malformations in these patients was analysed, the cases were found to fall into several groups. The largest group (13) had multiple anomalies involving the genitourinary (83% reproductive tract, 42% renal), gastrointestinal (...

Three patients with duplication of 3q regions ranging from 3q25----qter to the entire long arm provide additional documentation of the dup(3q) malformation syndrome. Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and ...

The patient had frontal bossing, micrognathia, depressed nasal bridge, high‐arched palate, multiple impacted supernumerary teeth [Figure 1], barrel‐shaped chest, cup‐shaped distal phalanges and down‐curving nails. Mouth opening was adequate but Mallampati airway grade (MP) was indeterminate. Height (135 cm) was less than 3rd percentile and weight (30 kg) was 10th percentile for her age. She had...