1/6. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature.patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with x-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
2/6. Frontonasal dysostosis in two successive generations.Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. Usually it is a sporadic disorder, although a few familial cases have been reported. We describe a 2-year-old girl with anterior cranium bifidum occultum, lipoma of genu and anterior part of the corpus callosum, and hypertelorism. Her mother had a history of a nasal drip at birth caused by a defect in the cribriform plate and phenotypically, a widow's peak. This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
3/6. Complete bilateral agenesis of the ilium in a 7-year-old ambulatory girl: case report.STUDY DESIGN: A 7-year-old ambulatory girl with complete bilateral agenesis of the ilium is reported. OBJECTIVE: To document the clinical evolution and the spino-pelvic balance of a girl with bilateral agenesis of the ilium. SUMMARY OF BACKGROUND DATA: Scapuloiliac dysostosis is a rare focal skeletal dysplasia consisting in hypoplasia of ilium and scapula. methods: A 7-year-old girl with a short stature was referred to our clinic at 35 months of age for an asymptomatic lumbar hyperlordosis. She presented a waddling gait, and normal range of motion of her upper and lower limbs. The neurologic examination was within normal limits. RESULTS: Initial radiographs at 35 months of age showed complete bilateral agenesis of the ilium with preservation of the pubis, ischium, and sacrum, associated with a bilateral high hip dislocation. The lumbar lordosis and sacral slope were 89 degrees and 84 degrees, respectively. A radiographic skeletal survey also showed hypoplasia of both scapulae. At 7 years old, the girl was fully ambulatory, with a waddling gait and had no pain. The sacral slope and lumbar lordosis have increased to 97 degrees and 97 degrees, respectively. There was no evidence of spondylolisthesis. So far, the patient has required no treatment for her condition. CONCLUSION: This article reports a unique case of scapuloiliac dysostosis with complete bilateral agenesis of the ilium in an ambulatory girl. This case indicates that a functional gait is possible with bilateral congenital absence of the ilium, provided that there is adequate muscular support and normal neurologic function.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
4/6. phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.In this report we present two unrelated patients with the postaxial dysostosis syndrome (Miller syndrome) and document further the phenotypic variability of the craniofacial stigmata and of the postaxial (and preaxial) upper and lower limb reduction anomalies.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
5/6. Acrofacial dysostosis with postaxial limb deficiency.Here we report on an adult man with the postaxial acrofacial dysostosis syndrome, as delineated by Miller et al [1979]. In addition to facial changes strikingly similar to that of the Teacher-Collins syndrome and a cleft soft and hard palate, symmetrical postaxial limb deficiencies with absence of the fifth digital rays in both the upper and lower limbs were present.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
6/6. Variant of atelosteogenesis? Report of a 20-week fetus.We report on a 20-week fetus with manifestations similar, but not identical, to those of atelosteogenesis. The present fetus had rhizomelic micromelia with absence of ossification in the humerus, radius, ulna, and cervical and upper thoracic vertebral bodies; coronal clefts in the ossified thoracic vertebral bodies; and talipes equinovarus. The physes were relatively normal on histologic examination.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |