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Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
Two cases of congenital syndactyly of all fingers are presented. Special anatomical abnormalities found during the operations are discussed. The correlation with an anatomically and ontogenetically well-founded classification provides knowledge for use in the individual case which may be helpful in selecting the proper surgical procedure, in establishing a schedule, and in providing the prognosis.
A case of a fifteen year old male with unusual congenital anomalies of hands and feet (Poly-syndactyly) is presented. There was associated talipes equino-varus deformity of the left foot with bilateral duplication of great toes. Both hands appeared like a cup but the patient was able to carry out his routine activities. The purpose of this report is to document a unique 'isolated' congenital anomaly.
Syndactylous donors, superovulation, embryo transfer, and fetal removal via cesarean section were used to test four Holstein-Friesian bulls suspected of being heterozygous for syndactyly. Two bulls produced syndactylous fetuses, and thus were proved heterozygous. The other two bulls each sired eight normal fetuses and were assumed to be homozygous normal.
In the course of the past nine years, 68 patients (42 boys, 26 girls) were surgically treated for syndactylism in 84 hands. In doing so, 135 syndactylies occurring mostly in the form of severe malformations of the hand were separated. In most cases the web spaces were made according to the surgical techniques developed by Blauth. With the exception of eight cases where secondary corrections had to be made due to shallow web spaces or to scarring, all results were highly satisfactory. The authors tend to evaluate any evidence of such disadvantageous scarring as a change which should be considered as "recurring syndactylism".
This report describes the treatment of simple syndactyly in a Golden Retriever. The left forepaw lacked cutaneous separation between the digits and had confluent metacarpal and digital pads. After vigorous exercise, the dog had intermittent non-weight-bearing lameness involving the affected forepaw. The lameness may have resulted from stretching of the thin skin on the dorsum of the paw as the digits attempted to spread during weight bearing. Surgical separation of digits 3 and 4 was performed by creating an interdigital web space with dorsal and palmar skin flaps and by covering the exposed axial surfaces with full-thickness skin grafts. At 11 weeks after surgery, the lameness had improved and the dog's level of activity had increased.
Five new cases of isolated syndactyly of the small and ring finger are described. Autosomal dominant inheritance is obvious. Brachymesophalangia of the fifth finger is a frequent association. Surgery is required at a young age.
A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right hand. The mother and maternal grandmother were born with the same hand malformation. Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. The present family provides evidence of the variable expression in oculodentodigital dysplasia. Inheritance is autosomal dominant.
The limb developmental program is comprised of processes of cell multiplication and of cell determination, differentiation and morphogenesis. Many of these processes depend on cell-cell communications within tissues and between different tissue types. The Authors present a review of the more significant data about the etiology of the syndactylies of the hand, both in their physiopathogenic aspects and in their clinical typology. The peculiarity of these malformations is outlined, supported by literature data and personal experimental experiences.
Report on a second family. The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, moderate to severe mental retardation, and cutaneous syndactylies of hands and feet. In addition, they show a mildly dysmorphic but apparently characteristic face. Radiologically, hands and feet demonstrate brachydactyly, metacarpals and metatarsals being the most severely affected. This observation confirms that this multiple congenital anomalies/mental retardation pattern is a distinct, probably autosomal recessively inherited entity.
We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly of hands. One sister, who died at four month of age, probably was also affected. This clinical association may represent an undescribed condition. Autosomal recessive inheritance is suggested.
An operation was performed in an 8-years-old girl suffering from a recessive dystrophic epidermolysis bullosa from birth complicated by a developed contracture and syndactyly of the both bones in order to eliminate these defects without using an autotransplant. The postoperative course was without complications, epithelialization developed by the end of the 3rd week. No recurrences were noted during 2 years.
We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, abnormal face and uncombable hair. A younger sib who died soon after the birth was probably also affected.
A 13-year-old mentally retarded girl with severe cutaneous and osseous syndactyly of the hands and feet, cleft lip/palate, and ectodermal dysplasia is presented. We conclude that the pattern of malformations described represents a new multiple malformation syndrome. A comparison with Zlotogora-Ogür syndrome is presented.
In the light of the international literature over the last ten years, the author reviews the surgical treatment of syndactyly, including the optimal age of operation, surgical treatment without grafts, treatment of digital extremities, prevention of commissural retraction, and long-term results.
The acrocephalosyndactyly syndromes (ACS) are a group of clinically similar disorders that share the manifestations of craniosynostosis and a variety of hand and foot anomalies. Here we report on a 5-generation kindred segregating sagittal craniosynostosis and syndactyly of the fingers and the toes in an autosomal dominant manner. The anomalies seen in this kindred comprise a syndrome distinct from other craniosynostosis syndromes. For this novel syndrome, we propose the name craniosynostosis, Philadelphia type.
We report on 3 members of a Spanish family with partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. The MCA pattern observed in this family appears to constitute a previously undescribed syndrome.
This paper is the second part of a survey of 370 patients with craniosynostosis. It concerns 109 patients with coronal synostosis, with or without additional suture involvement who lacked polysyndactyly or syndactyly. Bilateral and unilateral coronal synostosis occurred with approximately equal frequency and there was an excess of males in both groups. Multiple suture involvements was frequent in patients with bilateral synostosis, but was uncommon in those with unilateral involvement. Those patients with bilateral synostosis and additional suture involvement were treated later than those with isolated bilateral synostosis and a possible explanation for this finding is discussed. Forty-seven percent of patients with bilateral synostosis had additional major malformations. Cardiac malformations were significantly more frequent than would be expected by chance. Thirty-five percent of patients with unilateral involvement had major malformations. Twenty-six percent of those with bilateral and ten percent of those with unilateral synostosis were mentally retarded, but retardation was found to be associated either with increased frequency of major malformations or with a complex medical history. Mental retardation is uncommon in simple, uncomplicated coronal synostosis. Twelve of the 104 families showed a positive family history; nine with vertical and three with horizontal transmission. An admixture of unilateral and bilateral suture involvement was the rule, and families with involvement limited to unilateral synostosis did not occur. Certain patterns of characteristic familial minor malformation, particularly of the hands, allow recognition of a number of these familial cases. The recurrence risks for coronal synostosis are discussed.