Aglossia congenita with bony fusion of the jaws.
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Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy. This disorder has been reported previously in three infants, all of whom died in the first year of life. Two of these were sisters, suggesting autosomal recessive inheritance. We report four new patients with this distinct skeletal dysplasia, including two children now older than 4 years of age. In both of these patients neonatal contractures have improved with physical therapy and scoliosis has progressed significantly.
A child with ectrodactyly or lobster claw syndrome and bilateral ureterovesical junction obstruction is described. The embryogenesis of the kidney and the limb buds suggest that a close association exists between these 2 conditions. Therefore, it is important to investigate the urinary tract in all patients with limb deformities.
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Twenty digital replantations were done in the Princess Margaret Hospital, Hong Kong in the year from August 1977 to August 1978. The complications encountered in the post-operative period and later stages are discussed. Some of the measures that might contribute towards the prevention and treatment of these complications are analysed.
This paper reports on the long term problems of a group of patients who had sustained burns to the palmar aspect of one or both hands between eleven and eighteen years previously. Two of the eight patients who were re-examined had abnormalities of bony development in the hand. It is thought that the contracted scars resulting from the injury affect the growth of the bones of the hand. As development of contracted scars can develop at any time until growth of the hand is complete it is necessary to follow up these children until they reach maturity.
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Split hand/split foot malformation (SHFM), which typically appears as lobster-like limb malformation, is a rare clinical condition caused by a partial deletion of chromosome 7q. Hearing impairment sometimes accompanies syndromic SHFM cases; a case of inner and middle ear malformation with SHFM is described in this report. We conducted a genetic evaluation of this patient and found a deleted region that overlaps a previously reported locus of SHFM as well as a DFNB14 locus that can cause nonsyndromic hearing impairment by autosomal recessive inheritance.
A retrospective study was carried out to compare the effectiveness of different muscles as motors in modified lasso procedures for correction of finger clawing in leprosy. It was observed that palmaris longus and extensor carpi radialis longus were more suitable than the flexor digitorum superficialis. In some patients, removal of superficialis is associated with complications which could not be predicted before surgery. Extensor carpi radialis longus has advantages over palmaris longus in selected cases.
Vohwinkel syndrome or hereditary mutilating keratodermatitis is a rare condition producing palmoplantar hyperkeratosis and constricting rings of the fingers and toes which can progress to compromise neurovascular function and mobility. Medical treatment with oral retinol derivatives is recommended when its use is not contra-indicated. This paper describes surgical correction of the constricting rings on both hands in a 33-year-old woman affected by this condition.
Even though Charcot-Marie-Tooth (CMT) disease is seen frequently, relatively little has been written about the successful treatment of upper limb involvement using tendon transfers. It appears that there are several types of CMT disease and there is extreme variability in the clinical symptoms. The results of treatment were assessed by looking at four specific areas of hand function: decreased conduction velocity of the nerves, lack of opposition, weak pinch, and clawing of the fingers. A plan has been developed for tendon transfers that has worked well in clinical practice.
Nine patients underwent Ilizarov distraction-lengthening for congenital anomalies. All were late cases and had undergone other procedures. In five radial club hand patients with very short forearms, we achieved an average 5.8 cm increase in length with each distraction cycle. In two patients with symbrachydactyly of the cleft hand type, we achieved pinch grip between a radial and an ulnar digit by lengthening the short ray. Another case of the monodactyly type in which we tried to lengthen three transplanted proximal toe phalanges ended in failure. A soft tissue distraction was attempted in a case of camptodactyly but failed. We report the problems we encountered and suggest some solutions.