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A patient with severe amniotic band syndrome and true proximal syndactyly of the hand and foot is presented. The occurrence of these two seemingly unrelated anomalies may be pathologically linked with amniotic band syndrome in some as yet unexplained way or less likely may occur with amniotic band syndrome coincidentally.
For the interdigital space plasty to correct a syndactyly with fusion of the distal phalanges, we adopted a new operative procedure, covering the exposed distal bone with local rectangular flaps designed transversely on both dorsal and volar surfaces. A full-thickness skin graft from the groin region covers the remaining raw surface. The procedure was performed in six patients, and the flaps measured 6 mm (width) x 12 to 16 mm (length) in four patients, 5 x 15 mm in one patient, and 5 x 18 mm in one patient. Partial necrosis was observed in only one patient, in whom a narrow flap of 5 x 18 mm was used. In the other five patients, however, the results were satisfactory on both external appearance and function during the follow-up period of 3 to 6 years.
In 11 patients (1 to 28 years of age) having elective surgical release of congenital or burn syndactyly in 1982-1983, we used the modified Cronin method of web reconstruction with double opposing, inverted V-shaped flaps and full-thickness skin grafts. Postoperatively, the hands were splinted for three weeks, at which time we changed the dressing, with the patient under anesthesia. The hands were then immobilized for an additional three weeks. At the last clinic visit (13 to 20 months postoperatively) the hands were evaluated for adequacy of web space reconstruction, cosmesis, and postoperative complications. There was one partial loss of a full-thickness skin graft, which required regrafting when the patient prematurely removed his dressing. One proximal interphalangeal joint contracture required splinting. The web space reconstruction was judged adequate in all hands, and all patients and parents were pleased with the cosmetic results. This method of reconstruction gives good results and its web space reconstruction is technically easier than other methods.
Moore et al. [(1997) J Med Genet 70:67-73] and Clayton-Smith et al. [(1997) Clin Dysmorphol 6:291-302] have recently described a new overgrowth syndrome with macrocephaly, cutis marmorata, haemangiomas and digit syndactyly. Other features have included body asymmetry, hydrocephalus requiring shunting and developmental delay. All 22 cases reported are sporadic. We report a further case of this rare syndrome.
A female fetus with an unusual collection of congenital anomalies was detected prenatally. The pregnancy was terminated at 21 weeks of gestation. Clinical and pathological findings of bilateral cleft lip and palate, micrognathia, thymic hypoplasia, unilateral 1-2 finger syndactyly, bilateral multicystic dysplastic kidneys and heterotopic olivary tissue are presented. Differential diagnoses are discussed.
The authors report rare keloid formation after syndactyly release in two white children. Resection and skin grafting were used to treat these patients with only moderate success.
Synostoses of the carpals and metacarpals with oligodactyly were noted in a man whose brother was similarly affected. Since the proband's two children are normal, autosomal recessive transmission is probable. Although abnormalities of the feet, and particularly radioulnar synostosis, are lacking, this malformation is comparable to the Cenani-Lenz type of syndactyly. Interfamilial variations of published cases suggest subdivision of a new nosologic group.
A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline head circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.
Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin at birth. A subtype consisting of a solitary scalp defect in association with limb abnormalities has been described. We report a case of ACC in association with 3,4 syndactyly and supernumerary nipples with an apparent autosomal dominant inheritance pattern.
A danish girl with incomplete, bilateral cryptophalmos together with assoicated craniofacial malformations, laryngeal hypoplasia, syndactyly, unilateral renal aplasia and slight external genital abnormalities is reported. Chromosomal abnormalities or metabolic disorders were not demonstrated. As the condition is extremely rare, some clinical and pathological fingings previosuly described in analogous cases are mentioned, together with a few pathogenetic mechanisms. Finally, a discussion regarding the aetiology of the condition is presented. Most authors are convinced that the malformative pattern is a syndrome with an autosomally recessive genetic basis. Added envronmental influence explains the wide range of manifestations and the varying gene expressivity.
Fifty pedigrees of type I syndactyly were analysed for sex ratio and segreation pattern. Thirty-four of the pedigrees were from the published reports; 16 were collected in the State of Utah. Pedigrees with affected individuals showing webbing between the second and third toes are characterized by a sex ratio of affected individuals favouring males and a highly significant excess of affected sons of heterozygous fathers. A similar distorted segregation pattern is present in those pedigrees when the webbing involves the second and third toes and/or the third and fourth fingers, but not in those pedigrees when the webbing involves other digits. The reason for the distorted segregation pattern is unknown. Hypothesis include abnormal chromosome segregation and gametic selection.
Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.
We report on a 2 year old boy with an apparently previously undescribed multiple congenital anomaly/mental retardation syndrome characterised by postnatal short stature, postnatal microcephaly, dysmorphic face, syndactyly 2/5 of the hands and 1/4 of the feet, and brachymesophalangy of fingers 2 and 5.
A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven generations, of whom 182 are affected. It appears that a founder effect in this village has led to this extensive kindred. This condition is inherited as an autosomal dominant trait with variable expressivity and an estimated penetrance of 96%. Penetrance is different between the upper (96%) and lower (69.5%) extremities. No excess of affected males or females or other associated features were documented in this condition. Variations in the involvement of one or both hands, upper or lower extremities, bone and soft tissue, as well as variation in the affected subjects of two successive generations were documented. We also noted that metacarpal and metatarsal involvement and middle phalangeal hypoplasia of the feet are the consistent features of SPD and, therefore, should be considered as characteristic of this phenotype. We observed four different phenotypes in various branches of the Derbent kindred: (1) subjects presenting typical features of SPD; (2) subjects exhibiting both pre- and post-axial polydactyly simultaneously; (3) persons manifesting postaxial polydactyly type A; and (4) subjects born to two affected parents with severe hand and foot deformities that have not been previously described in any other SPD families (that is, homozygotes). A total of 27 affected offspring were born to two such affected parents, of whom seven are expected to be homozygous for the SPD gene. This group is presented in an accompanying paper in this issue of the Journal. A molecular study is currently under way to identify the chromosomal location of the defective gene.
A case of syndactyly in a captive bred white-lipped tamarin (Saguinus nigricollis) is reported which involved the fusion of metacarpals 3 and 4 of both hands. Variations in the vertebral formula among the parents and offspring were also found.
Diagnostic guidelines were established for progeny testing of hereditary bovine syndactyly. Through the use of superovulation and embryo transfer, 139 fetuses were recovered at 50 to 77 days gestation. Normal (+/+, +/sy) and syndactylous (sy/sy) anatomy of Holstein fetuses was defined, and the accuracy of macroscopic versus microscopic limb diagnosis was assessed. Chondrification and ossification differences between normal (+/+, +/sy) and syndactylous (sy/sy) fetuses were only age-related. Normal (+/+, +/sy) fetal limbs differed from normal (+/+, +/sy) adult bovine limbs in two ways. Fetal metacarpal and metatarsal III and IV bones were not fused, and fetal metacarpal and metatarsal II and V bones often extended up to three-fourths the length of metacarpal and metatarsal III and IV bones. In syndactylous (sy/sy) fetuses, synostosis asymmetries occurred within and between fetal limbs, and between fetuses, representing variable gene expressivity. Synostosis pattern within limbs did not correspond with those of the adult bovine; the second phalangeal pair was synostotic most frequently in the fetus, followed by the first, and then the third pair. Synostosis patterns between fetal limbs agreed with those of the adult; there was a right-left and front-rear limb gradient. Partial synostoses occurred sporadically in all three paired phalanges. Those of the first and third pair always involved the tip closest to the second phalangeal pair. A unique example of variable gene expressivity occurred in one syndactylous fetus. Both front limbs were syndactylous, while both rear limbs were normal grossly. Microscopically the right rear limb was normal while the left rear limb consisted of closely apposed phalangeal blastemata without coalescence.(ABSTRACT TRUNCATED AT 250 WORDS)
Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals have epilepsy and normal intelligence with no other congenital anomalies. A striking skew of the sex ratio has been observed because 31 of 38 probands have been female, and one gene associated with BPNH was recently mapped to chromosome Xq28. We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. Variable abnormalities included focal or regional cortical dysplasia, cataracts, and hypospadius. We hypothesize that this syndrome involves the same Xq28 locus as isolated BPNH, and we review the expanding number of syndromes associated with BPNH.
This paper describes previously unreported malformations of both fore and hind feet in a liveborn common marmoset. Ectrodactyly of both fore feet and left hind foot and syndactyly of the right hind foot were observed.