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PubMedDate not supplied

Ellis-van Creveld Syndrome: a report of two cases.

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes EVC syndrome in two sisters of Indian origin, ages 8 and 6 years, the products of nonrelated, unaffected parents. The patients had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly, severely dystrophic nails, partially absent teeth, and short and bound-down upper lips with multiple frenulae. Other features noted in the girls were syndactyly and mild mitral regurgitation. All four of the classic features of EVC syndrome were present in patient 1 and three in patient 2. Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously. The importance of prenatal diagnosis of EVC is stressed and a multidisciplinary approach for the management of these patients is highlighted.

Child↗
PubMed2000

Congenital anomalies: a 25-year overview.

Expansion of the discipline of hand surgery and heightened interest in congenital problems have resulted in major advances in the treatment of congenital hand anomalies over the past 25 years. Increased experience with congenital anomalies of the hand has expanded the hand surgeon's knowledge of patterns and relationships between different anomalies resulting in new methods of classification and more logical approaches to treatment. The principles of treatment of the more common anomalies, such as syndactyly, established by prior generations of hand surgeons have been refined in details of technique. New technologies, such as distraction lengthening and free vascularized transfers, have allowed the surgeon to treat new problems and old problems in new ways. In spite of our successes, much remains to challenge hand surgeons in this new millennium, especially in the construction of joints and the expanding field of fetal surgery.

Bone Lengthening↗
PubMed2002

Hepatic exstrophy complicating Poland's anomaly.

Poland's anomaly is comprised of a constellation of anomalies. To be included in the syndrome, a child must have a deficiency of the pectoralis major and minor muscles and an associated anomaly of either the ipsilateral breast or hand. Associated defects may include syndactyly osseous and cartilagenous costal aplasia and adactyly. A case of hepatic exstrophy through a full-thickness chest wall defect in an infant with Poland's anomaly is reported.

Echocardiography↗
PubMed1999

Microneurovascular transfer of contralateral latissimus dorsi in Poland's syndrome.

A 2-year-old girl with Poland's syndrome presented with syndactyly of the first, second and third webs of the left hand and ipsilateral absence of the sternocostal portion of pectoralis major. Latissimus dorsi on the same side was also absent. A microvascular free contralateral latissimus dorsi muscle transfer was undertaken to reconstruct the chest wall and anterior axillary fold. The transfer was innervated by intercostal nerve transfer and produced a neuromuscular unit of good aesthetic appearance and function.

Child, Preschool↗
PubMed2001

Classification of hand anomalies in Poland's syndrome.

Poland's syndrome classically consists of the combination of unilateral aplasia of the sternocostal head of the pectoralis major muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. However, patients with Poland's syndrome may have a broad range of hand anomalies. In this paper, the author reviews 20 cases of Poland's syndrome and offers a classification of the hand anomalies. The hand anomalies are divided into seven types according to the severity of the deformity. Clinical cases are presented along with similar cases from the literature. The aetiology of Poland's syndrome is discussed and the various malformations that may co-exist with this syndrome are reviewed.

Adult↗
PubMed2000

An experience of the Snow-Littler procedure.

This paper reviews the results of the Snow-Littler procedure performed in twelve hands with classical central longitudinal deficiency and in one hand with symbrachydactyly, cleft type. There were no instances of major flap necrosis although two flaps showed tip ischaemia. The width of the first web was, in the main, satisfactory but four webspace revisions were performed. Supplementary skin grafting at the time of surgery was necessary in complete and/or complex thumb index syndactylies and in the patient with symbrachydactyly. In eight cases, a transverse metacarpal ligament was reconstructed. In the five other cases, no clinical instability or radiological divergence of the index and ring fingers occurred, in spite of no transverse metacarpal ligament reconstruction. Three de-rotational osteotomies of transposed index fingers were performed in patients who had a transverse metacarpal ligament reconstruction. These results indicated significantly improved appearance and improved function following the Snow-Littler procedure.

Child↗
PubMed1997

Ultrasound detection of Apert syndrome: a case report and literature review.

Apert Syndrome is characterized by craniosynostosis, bilateral syndactyly, and midfacial hypoplasia. Although it was first described by Wheaton in 1894, it was first diagnosed prenatally only a decade ago-with only five cases reported in the literature. A sixth case is reported here. Prenatal diagnosis of Apert syndrome is reviewed.

Abortion, Therapeutic↗
PubMed1999

[Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings].

Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, syndactyly). Due to more or less subtle clinical features, at least seven causally different entities can be identified: 1) OFDS I; 2) OFDS II (Mohr syndrome); 3) OFDS III; 4) OFDS with tibial anomalies (OFDS IV); 5) OFDS V (Thurston syndrome); 6) OFDS VI (Váradi syndrome); and 7) OFDS VII (Whelan syndrome). The neuro-psychiatric clinical observations and MRI findings of a 40 year old woman with a OFD syndrome are described. The observed findings (leukoaraiosis, epilepsy, major depression) in combination with a proven OFD syndrome possibly reflect a new type of OFD syndrome.

Adult↗
PubMed1992

[Neuropsychiatric manifestations of Saethre-Chotzen syndrome].

Four psychiatric patients with SCS are described. All exhibited essential tremor, minimal cerebral dysfunctions, speech disorders, bradyphrenia, disorders of personality with psychasthenie and suspicious traits, restrictions, increased irritability and depressivity, one case of mutism due to abnormal reaction and one of alcohol hallucinosis. The possibility of cosmetic handicap caused by craniofacial dysplasia should be taken into mind and perhaps surgically corrected. Because the craniofacial dysplasia is mostly moderate and the syndactylies are slight the SCS remains often unrecognized, but apart from psychic maldevelopment it is significant as the result of frequent association with other malformations.

Acrocephalosyndactylia↗
PubMedDate not supplied

[Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].

An unbalanced structural chromosome aberration was found in a 6-year-old girl. Mother and maternal grandmother were shown to be carriers of a complex balanced translocation involving chromosomes 1, 5 and 15 and are of normal phenotype. The unbalanced status in the proband was defined as a partial trisomy 1p21-1p31. Partial trisomies of this chromosomal segment have rarely been reported. Unexpectedly, the consequences on the child's phenotype are only minor. Main features are: facial dysmorphy, small stature and syndactyly of 4th and 5th toes; mental and statomotoric development are not grossly affected.

Abnormalities, Multiple↗
PubMedDate not supplied

[The treatment of congenital foot abnormalities].

With the exception of club foot, flat foot and claw foot, this paper gives a review of principal foot malformations at birth, proceeding from the available radiographical and clinical findings, and also from the facts found during surgery. In addition, there is suggested a classification of various deformities, and there are defined major guidelines and instructions for treatment. As far as the rather frequent polydactylies are concerned, the author distinguishes between a distal phalanx type, an interphalanx type, a proximal phalanx type, a metatarsal type and a tarsal type, depending on the "level", each, where distal/proximal web separation between the fingers stops. It is possible to include also rather particular forms, such as the rudimentary type and the so-called multiplications in this classification. The major indications for the surgical treatment of polydactylies are problems in finding adequate shoes, and also the aesthetic appearance. The principal concern of surgical treatment is to remove additional toes. When there is in parallel a syndactyly or a congenital hallux varus, this may require great skill in the applied surgical technique. Various approaches of surgical treatment are demonstrated by a few examples. Feet oligodactylies are primarily encountered with fibula dysplasia or aplasia, or in cleft feet. In very severe cases it is possible to find just one toe. The actual deformities alone rarely require surgical treatment, but they often "hint at" further malformations in the reach of the root of the foot (synostosis) and of the lower limb. Cleft feet are also frequently impaired in form and function, with these deformities including less severe hypoplasia of a middle toe, e. g. with a somewhat deeper web separation, toe aplasia, metatarsus hypoplasia and aplasia, synostosis, and transversal bones, and even monodactylies with only ray V existing. Additional toes in the cleft foot is one of the rare exceptions. However, the combination of cleft feet and cleft hands is rather frequently encountered. Many cleft feet are nevertheless highly efficient, even without any surgical treatment. That is why there are only indications for a surgical treatment when there are severe foot deformities or most inconvenient misalignments of peripheral toes. Some of the "lobster like" feet are so wide that it is just not possible to wear normal shoes. In this case it is recommended to have surgical correction and to close the cleft. Feet of congenital giant growth are extremely rare, but they raise most complex problems as to adequate treatment. In many cases, an amputation of the additional parts cannot be avoided.(ABSTRACT TRUNCATED AT 400 WORDS)

Child↗
PubMed1981

[Extension according to Matev in malformations of the hands (author's transl)].

Step-by-step distraction of the metacarpal I according to Matev in traumatic loss of the thumb is demonstrated in a modified form with interposition of a corticospongious bone chip. Subsequently, the article reports on the use of this method in congenital malformations of the hand on the basis of three different examples.--Firstly, monodactyly with extension of a second metacarpal as passive counter-support,--Secondly, symbrachydactyly with rudimentary metacarpal rests I to V with extension of I and then of III and IV, followed by subtotal resection of the second metacarpal stump and phalangisation, and--Thirdly, bilateral severe malformation of the hand through amniotic segmentations and exogenous syndactylies with extension of metacarpal I, ligamental transposition and commissural deepening. The results show that--provided indication is strict on account of the almost always satisfactory substitute grasping actions in congenital malformations of the hand--an effective improvement of the grasping function can be achieved in selected individual cases by means of Matev's method.

Adolescent↗
PubMed1989

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence-Moon-Biedl syndrome), we looked for the five recognized features of the disorder (retinal dystrophy, obesity, polydactyly, mental retardation, and hypogonadism), plus possible renal manifestations, in some or all of 32 patients with this disorder. All 28 patients examined had severe retinal dystrophy, but only 2 had typical retinitis pigmentosa. Polydactyly was present in 18 of 31 patients, but syndactyly, brachydactyly, or both were present in all. Obesity was present in all but 1 of 25 patients. Only 13 of 32 patients were considered mentally retarded. Scores on verbal subtests of intelligence were usually lower than scores on performance tasks. Seven of eight men had small testes and genitalia, which was not due to hypogonadotropism. All 12 women studied had menstrual irregularities, and 3 had low serum estrogen levels (1 of these had hypogonadotropism, and 2 had primary gonadal failure). The remaining women who were of reproductive age had endocrinologic evidence of reproductive dysfunction. Diabetes mellitus was present in 9 of 20 patients. Renal structural or functional abnormalities were universal (n = 21), and three patients had end-stage renal failure. We conclude that the characteristic features of Bardet-Biedl syndrome are severe retinal dystrophy, dysmorphic extremities, obesity, renal abnormalities, and (in male patients only) hypogenitalism. Mental retardation, polydactyly, and hypogonadism in female patients are not necessarily present.

Female↗
PubMed2003

Graftskin therapy in epidermolysis bullosa.

BACKGROUND: Epidermolysis bullosa (EB) is a family of 23 genetic skin disorders for which treatments are mainly supportive. Graftskin is a bilayered living human skin construct characterized by a normal expression profile of all the genes reported as mutant in EB. OBJECTIVE: The objective of this study was to evaluate the efficiency and durability of graftskin in the treatment of EB. METHODS: A total of 9 children with EB were treated with graftskin. These include EB simplex: Dowling-Meara type (n = 2); Weber-Cockayne type (n = 1); junctional EB-Herlitz type (n = 1); and recessive dystrophic EB (n = 5). Lesions were debrided of epidermis and crusts followed by application of fenestrated graftskin under sterile conditions. Syndactyly hand release for "mitten deformity" was performed after removal of all epidermis under general anesthesia. All treatment sites were dressed with a nonadherent contact layer followed by absorbent foam dressing, roll gauze, and a compression wrap covering and were left intact for 1 week. Graft take was assessed clinically at weeks 1, 2, 4, 12, and 20 to 28. Graft persistence was assessed by electron microscopy and polymerase chain reaction analysis at weeks 4 and 12, and between weeks 20 and 28 on selected cases. RESULTS: A total of 96 sites were treated with 90% to 100% healing observed by 5 to 7 days, and many sites appearing as normal skin by 10 to 14 days. Finger and hand lesions showed 50% to 90% improvement in range of motion over baseline. Two children learned to walk after graftskin treatment of chronic plantar lesions. Two children had improvement in their chronic anemia after graftskin treatment. All patients and/or parents reported rapid pain resolution. Immunologic and genetic studies of graft persistence revealed evidence of donor DNA up to 28 weeks after graftskin application. None of the samples from female patients demonstrated Y chromosome-specific sequence when analyzed by the method of short tandem repeat. CONCLUSION: The encouraging results reported herein support the hypothesis that graftskin is more than a simple bandage or a source of growth factors to stimulate autologous closure of EB wounds. The improved quality of life and rapid achievement of growth/development milestones we have observed makes this an exciting step forward in the care of the patient with EB.

Adolescent↗
PubMed2003

Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome.

In 1954, Papillon-Leage and Psaume were the first to describe the clinical characteristics of oral-facial-digital syndrome (OFDS). On the basis of their clinical features and the inheritance pattern, 2 variants were initially distinguished, namely OFDS type I (Papillon-Leage and Psaume) and OFDS type II, or Mohr syndrome. At present, 11 types of OFDS have been discovered. OFDS represents a heterogeneous group of disorders characterized by oral manifestations including oral frenula, cleft or lobulated tongue, high arched palate, cleft lip and/or palate, facial anomalies, and digital abnormalities such as syndactyly, polydactyly, brachydactyly, and clinodactyly. Depending on the type of OFDS, abnormalities may be present in other organs, such as the brain and heart. We report a patient with OFDS in whom multiple recurrent and de novo keratocysts were found. Although multiple keratocysts are commonly found in Gorlin-Goltz nevoid basal cell carcinoma syndrome, a relationship between OFDS and multiple keratocysts has not been described.

Child↗
PubMed2004

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.

Fraser syndrome is a rare recessive disorder characterized by cryptophthalmos, syndactyly, renal defects, and a range of other developmental abnormalities. Because of their extensive phenotypic overlap, the mouse blebbing mutants have been considered models of this disorder, and the recent isolation of mutations in Fras1 in both the blebbed mouse and human Fraser patients confirms this hypothesis. Here we report the identification of mutations in an extracellular matrix gene Fras1-related extracellular matrix gene 1 (Frem1) in both the classic head blebs mutant and in an N-ethyl-N-nitrosourea-induced allele. We show that inactivation of the gene results in the formation of in utero epidermal blisters beneath the lamina densa of the basement membrane and also in renal agenesis. Frem1 is expressed widely in the developing embryo in regions of epithelial/mesenchymal interaction and epidermal remodeling. Furthermore, Frem1 appears to act as a dermal mediator of basement membrane adhesion, apparently independently of the other known "blebs" proteins Fras1 and Grip1. Unlike both Fras1 and Grip1 mutants, collagen VI and Fras1 deposition in the basement membrane is normal, indicating that the protein plays an independent role in epidermal differentiation and is required for epidermal adhesion during embryonic development.

Amino Acid Sequence↗
PubMed2006

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

An emerging family of extracellular matrix proteins characterized by 12 consecutive CSPG repeats and the presence of Calx-beta motif(s) includes Fras1, QBRICK/Frem1, and Frem2. Mutations in the genes encoding these proteins have been associated with mouse models of Fraser syndrome, which is characterized by subepidermal blistering, cryptophthalmos, syndactyly, and renal dysmorphogenesis. Here, we report that all of these proteins are localized to the basement membrane, and that their basement membrane localization is simultaneously impaired in Fraser syndrome model mice. In Frem2 mutant mice, not only Frem2 but Fras1 and QBRICK/Frem1 were depleted from the basement membrane zone. This coordinated reduction in basement membrane deposition was also observed in another Fraser syndrome model mouse, in which GRIP1, a Fras1- and Frem2-interacting adaptor protein, is primarily affected. Targeted disruption of Qbrick/Frem1 also resulted in diminished expression of Fras1 and Frem2 at the epidermal basement membrane, confirming the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 in this location. When expressed and secreted by transfected cells, these proteins formed a ternary complex, raising the possibility that their reciprocal stabilization at the basement membrane is due to complex formation. Given the close association of Fraser syndrome phenotypes with defective epidermal-dermal interactions, the coordinated assembly of three Fraser syndrome-associated proteins at the basement membrane appears to be instrumental in epidermal-dermal interactions during morphogenetic processes.

Animals↗
PubMed2001

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

Apert syndrome (AS) is characterized by craniosynostosis (premature fusion of cranial sutures) and severe syndactyly of the hands and feet. Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. To elucidate the mechanism by which these substitutions cause AS, we determined the crystal structures of these two FGFR2 mutants in complex with fibroblast growth factor 2 (FGF2). These structures demonstrate that both mutations introduce additional interactions between FGFR2 and FGF2, thereby augmenting FGFR2-FGF2 affinity. Moreover, based on these structures and sequence alignment of the FGF family, we propose that the Pro-253 --> Arg mutation will indiscriminately increase the affinity of FGFR2 toward any FGF. In contrast, the Ser-252 --> Trp mutation will selectively enhance the affinity of FGFR2 toward a limited subset of FGFs. These predictions are consistent with previous biochemical data describing the effects of AS mutations on FGF binding. Alterations in FGFR2 ligand affinity and specificity may allow inappropriate autocrine or paracrine activation of FGFR2. Furthermore, the distinct gain-of-function interactions observed in each crystal structure provide a model to explain the phenotypic variability among AS patients.

Acrocephalosyndactylia↗