1/35. Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis.We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. A review of few reports on this unusual association is presented and the possible pathogenetic mechanism is discussed.- - - - - - - - - - ranking = 1keywords = synostosis (Clic here for more details about this article) |
2/35. Autosomal recessive multiple pterygium syndrome: a new variant?Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.- - - - - - - - - - ranking = 0.2keywords = synostosis (Clic here for more details about this article) |
3/35. Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.A young man was found to have multiple synostosis syndrome type I after presenting with a neck injury causing a cervical spinal cord contusion. Neurological symptoms and signs suggested spinal cord compression. Magnetic resonance (MR) and computerized tomography (CT) imaging of the spine showed spinal canal stenosis with cord compression at C3-C6, a deformed spinal canal flattened in the anteroposterior dimension, vertebral fusions and deformed lateral processes of the vertebrae. He had a long broad nose with hypoplasia of the alae nasi, conductive hearing loss requiring hearing aids, muscular build, stiff spine, prominent acromia, pectus excavatum, ischial prominences, short fifth fingers, fusion at the proximal interphalangeal joints of the fifth fingers with indistinct overlying creases, and toe syndactyly. Spinal cord stenosis is a serious complication of multiple synostosis syndrome, that should be kept in mind in considering the risk of neck or back injury associated with certain sports or other activities. In both the multiple synostosis syndrome and the less severe proximal symphalangism deafness syndrome, mutations have been detected in the human homologue of the noggin gene on chromosome 17q21-q22.- - - - - - - - - - ranking = 1.4keywords = synostosis (Clic here for more details about this article) |
4/35. Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.- - - - - - - - - - ranking = 1keywords = synostosis (Clic here for more details about this article) |
5/35. Possible third case of Lin-Gettig syndrome.We report a patient with craniosynostosis, severe mental retardation, absence of the corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect. We propose that he has Lin-Gettig syndrome and that he is the third reported patient with this entity. Our patient also had additional phenotypic features, including palatal cleft and absent rapid eye movement (REM) sleep that were not present in the two previously described patients with this syndrome. High-resolution karyotype and subtelomeric fluorescence in situ hybridization (FISH) for cryptic telomeric rearrangement were normal. The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity.- - - - - - - - - - ranking = 0.2keywords = synostosis (Clic here for more details about this article) |
6/35. A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III.- - - - - - - - - - ranking = 0.4keywords = synostosis (Clic here for more details about this article) |
7/35. Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children. We report a 13-year-old girl with SSS and a midline unsegmented bar running along the spinal processes of T3 to L2 and extending into the posterior vertebral elements.- - - - - - - - - - ranking = 1keywords = synostosis (Clic here for more details about this article) |
8/35. Radial shift of the ulnar fingers: a new technique for special cases of longitudinal central deficiency.Treatment of central longitudinal deficiencies is well defined, with different techniques established for the classical clefts. However, none of these techniques is easily applied to the treatment of very deep clefts accompanied by a significant divergence of the metacarpal bones. In such cases, the results of current techniques are disappointing. We propose a new technique of "Translocation in the Radial direction of the Ulnar Finger(s)" (TRUF) by intra-carpal osteotomy. The results are illustrated in three clinical cases. The TRUF operation allowed closing of the cleft, alignment of the metacarpal bones and preservation of carpometacarpal mobility. When necessary, a metacarpal synostosis may be treated at the same procedure.- - - - - - - - - - ranking = 0.2keywords = synostosis (Clic here for more details about this article) |
9/35. Creation of an opposable small finger by muscle transfer.We present a case of a child born with metacarpal synostosis of the index, long, and ring fingers associated with a simple syndactyly of the small finger and an absent thumb. At age 7 months, a syndactyly release with skin grafting to the small finger was accomplished so that it became the new thumb. At age 4 years, one of the muscles on the radical border of the hand was transferred to the small finger to act as an opposition transfer. At follow-up, the transfer contracted well and the functional capability of the hand was improved. This operation will not often be used but should be considered for the occasional patient with congenital anomalies.- - - - - - - - - - ranking = 0.2keywords = synostosis (Clic here for more details about this article) |
10/35. Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.We report on 3 persons in a 3-generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.- - - - - - - - - - ranking = 0.2keywords = synostosis (Clic here for more details about this article) |
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