A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: a new syndrome?
| Autor: | Pope Fm, Collins Al, Clarke N, Dennis Nr |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male Puffiness around the eyes medicine.medical_specialty Clinodactyly Pathology and Forensic Medicine Finger Joint Dislocation (syntax) medicine Humans Hypertelorism Child Hip Dislocation Congenital Bilateral congenital dislocation Genetics (clinical) Family Health business.industry Infant Syndrome General Medicine Anatomy Pedigree Surgery Head circumference Facial appearance medicine.anatomical_structure Child Preschool Face Pediatrics Perinatology and Child Health Ligament Female medicine.symptom business |
| Zdroj: | Clinical Dysmorphology. 4:277-282 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/00019605-199510000-00001 |
| Popis: | We describe a mother and her three daughters who all have bilateral congenital dislocation of the hip. The mother has had no other medical problems and is on the 90th centile for height. Her three daughters resemble each other strongly with facial characteristics which include hypertelorism, epicanthic folds, puffiness around the eyes, a flat mid-face and a carp-shaped mouth. All three daughters are on the 3rd centile for height, with their head circumference on a higher centile and all had an ASD. Other features include congenital dislocation of one knee (one), congenital inguinal hernia (one) and vesico-ureteric reflux (one). They also have clinodactyly and hyperextensible finger joints, both features also seen in their father, whose height is on the 3rd centile and who had bilateral congenital inguinal herniae. Collagen studies of skin and ligament were normal. This family does not appear to fit with any of the recognized congenital dislocation syndromes and we suggest that they may represent a previously undescribed syndrome. |
| Databáze: | OpenAIRE |
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