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PubMed2005

The genetics of Fraser syndrome and the blebs mouse mutants.

Fraser syndrome is a recessive multisystem disorder characterized by embryonic epidermal blistering, cryptophthalmos, syndactyly, renal defects and a range of other developmental abnormalities. More than 17 years ago, the family of four mapped mouse blebs mutants was proposed as models of this disorder, given their striking phenotypic overlaps. In the last few years, these loci have been cloned, uncovering a family of three large extracellular matrix proteins and an intracellular adapter protein which are required for normal epidermal adhesion early in development. The proteins have also been shown to play a crucial role in the development and homeostasis of the kidney. We review the cloning and characterization of these genes and explore the consequences of their loss.

Abnormalities, Multiple↗
PubMed2006

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome caused by mutations in the 3beta-hydroxysterol Delta(7)-reductase gene (DHCR7). SLOS patients have decreased cholesterol and increased 7-dehydrocholesterol (7-DHC) levels. Dietary cholesterol supplementation improves systemic biochemical abnormalities; however, because of the blood-brain barrier, the central nervous system (CNS) is not treated. Simvastatin therapy has been proposed as a means to treat the CNS. Mice homozygous for a null disruption of Dhcr7, Dhcr7(Delta3-5/Delta3-5), die soon after birth, thus they cannot be used to study postnatal development or therapy. To circumvent this problem, we produced a hypomorphic SLOS mouse model by introducing a mutation corresponding to DHCR7(T93M). Both Dhcr7(T93M/T93M) and Dhcr7(Delta3-5/T93M) mice are viable. Phenotypic findings in Dhcr7(T93M/Delta3-5) mice include CNS ventricular dilatation and two to three syndactyly. Biochemically, both Dhcr7(T93M/T93M) and Dhcr7(T93M/Delta3-5) mice have elevated tissue 7-DHC levels; however, the biochemical defect improved with age. This has not been observed in human patients, and is due to elevated Dhcr7 expression in mouse tissues. Dietary cholesterol therapy improved sterol profiles in peripheral, but not CNS tissues. However, treatment of Dhcr7(T93M/Delta3-5) mice with simvastatin decreased 7-DHC levels in both peripheral and brain tissues. Expression of Dhcr7 increased in Dhcr7(T93M/Delta3-5) tissues after simvastatin therapy, consistent with the hypothesis that simvastatin therapy improves the biochemical phenotype by increasing the expression of a Dhcr7 allele with residual enzymatic activity. We conclude that simvastatin treatment is efficacious in improving the SLOS-associated sterol abnormality found in the brain, and thus has the potential to be an effective therapeutic intervention for behavioral and learning problems associated with SLOS.

3T3 Cells↗
PubMed2003

Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies.

BACKGROUND: While chromosomal abnormalities are often the cause of missed abortions, other defects could be involved, which might be screened for by transcervical embryoscopy. METHODS: A total of 272 patients with missed abortion underwent transcervical embryoscopy prior to dilatation and curettage, together with cytogenetic analysis of chorionic villi, using either standard G-banding cytogenetic techniques or comparative genomic hybridization in combination with flow cytometry analysis. RESULTS: Visualization of the embryo or early fetus (12 cases) was successful in 233 patients, and karyotyping in 221. Among 233 examined cases, 33 had normal external features, 71 were classified as growth-disorganized and 129 had either isolated or multiple defects, including holoprosencephaly, anencephaly, encephalocele, spina bifida, microcephaly, facial dysplasia, limb reduction defect, cleft hand, syndactyly, pseudosyndactly, polydactyly, various forms of cleft lip and an amniotic adhesion. Of the 165 cases with an abnormal karyotype, there were 46 grossly disorganized embryos, 98 multiple defects, six single defects and 15 morphologically normal cases. Of the 56 cases with a normal karyotype, there were 20 grossly disorganized embryos, 16 multiple defects, four single defects and 16 morphologically normal cases. CONCLUSIONS: A total of 75% of the cases with missed abortion had an abnormal karyotype, 18% had a morphological defect with a normal karyotype, while no embryonic or chromosomal abnormality could be diagnosed in 7% of the cases. Correlation of morphological and cytogenetic findings in spontaneous abortion specimens could provide valuable information for genetic counselling and prenatal care in future pregnancies in couples with a history of repeated pregnancy loss.

Abnormalities, Multiple↗
PubMedDate not supplied

Cataract--webbed Peromyscus. I. Genetics of cataract in P. maniculatus.

Cataract--webbed (cw) in the deer mouse (Peromyscus maniculatus) is a recessive mutant that is manifested by syndactyly (involving soft tissues) and eye defects including cataract. Within cw/cw mice, the age at which cataract first appears is genetically controlled. Evidence for the activity of genetic modifiers is the early appearance of cataracts in the offspring of parents that developed cataracts at early ages.

Animals↗
PubMed1980

Impending Volkmann's contracture in a newborn.

A newborn presented with severe necrosis of the volar aspect of the forearm and impending Volkmann's contracture. This is the youngest such patient reported in the literature. We suspect prolonged intrauterine pressure from an amniotic band. Such bands are known to cause constricting rings, syndactyly, and congenital amputations. If our assumption is correct, this case is unique.

Amniotic Band Syndrome↗
PubMed1989

Use of temporoparietal fascia free flap in digital reconstruction.

Temporoparietal fascia free flap is an excellent source for resurfacing soft tissue defects of the hand and fingers. Because of the reliable anatomical bifurcation of the superficial temporal vessels, this flap can be very useful in simultaneous reconstruction of more than one digit without having to create a temporary syndactyly.

Adult↗
PubMed1995

Internal brain herniation in a patient with Apert's syndrome.

Patients with Apert's syndrome typically exhibit craniosynostosis, exorbitism, midface hypoplasia, and symmetric syndactyly. There have also been occasional descriptions of the variable dysmorphology of the inner surface of the calvarium. We present a patient with Apert's syndrome who had an intracranial herniation of a portion of the frontal lobe through a ridge of ossified dura. The ridge and the gliotic cortical tissue were removed when the patient underwent repair of the hypertelorism at age six. Bone grafts for this repair were fashioned in part from the resected ridge. We believe this finding may be the result of a small dural tear that occurred during prior surgery.

Acrocephalosyndactylia↗
PubMed1999

Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae.

Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies. Affected infants usually die perinatally. The authors present an 8-month-old female infant with manifestations of this syndrome and some additional traits including fusion of the lips, intraoral filiform bands, alopecia totalis, and posterior fusion failure of the vertebrae. The fused lips were opened by incising the fibrotic bands closing her mouth. Details of this patient and a brief review of the literature is presented.

Abnormalities, Multiple↗
PubMed1998

The feet in Pfeiffer's syndrome.

Broad toes are the classic clinical finding occurring in the feet in Pfeiffer's syndrome patients, but few cases undergo formal radiological assessment. However, the feet in other craniosynostosis syndromes resulting from mutations of the fibroblast growth factor receptor 2 gene have anomalies at many other sites within the feet, which raised the possibility that there may also be a wider range of anomalies other than broad big toes in the feet of those with Pfeiffer's syndrome. The object of this study was to assess prospectively the incidence and pattern of clinical and radiographic anomalies of the feet of patients with a confirmed diagnosis of Pfeiffer's syndrome. Twenty-two Pfeiffer's syndrome patients were examined both clinically and radiologically for anomalies of the feet. Clinical examination revealed broad big toes in 12 patients and syndactyly in 2. Radiographs of the feet were evaluated by a radiologist with an interest in skeletal dysplasia as well as by members of the Craniofacial team. A wider range of radiological than clinical anomalies involving the phalanges, metatarsals, and tarsals was seen. The severity of the anomalies observed ranged from normal to those resembling the feet of Apert's syndrome patients. Only 4 patients had radiologically normal feet. These radiographic findings suggest that there is a range of foot anomalies more extensive than the broad big toes, which are classically associated with Pfeiffer's syndrome.

Acrocephalosyndactylia↗
PubMed2002

Extradural thoracic arteriovenous malformation in a patient with Klippel-Trenaunay-Weber syndrome: case report.

OBJECTIVE AND IMPORTANCE: Spinal cord involvement in Klippel-Trenaunay-Weber (KTW) syndrome is rare. Cases of intradural spinal cord arteriovenous malformations (AVMs) have been associated with this syndrome. Likewise, cases of epidural hemangioma and angiomyolipoma have been reported to occur at the same segmental level as cutaneous hemangioma in KTW syndrome. This report details a rare case of an extradural thoracic AVM in a patient with KTW syndrome. CLINICAL PRESENTATION: A 30-year-old man presented with a 10-month history of progressive myelopathy, bilateral lower-extremity weakness, and numbness, with the right side affected more than the left. His symptoms had progressed to the point that he was unable to walk. The patient had the characteristic manifestations of KTW syndrome, including numerous cutaneous angiomas and cavernomas, limb hypertrophy and syndactyly, and limb venous malformations. A magnetic resonance imaging scan and subsequent angiogram demonstrated a large extradural AVM causing cord compression at the T3-T4 levels. INTERVENTION: The patient underwent two separate endovascular procedures, including embolization of upper thoracic and thyrocervical trunk feeders. Subsequently, he underwent T1-T4 laminectomy and microsurgical excision of the AVM. Clinically, the patient improved such that he could walk without assistance. CONCLUSION: KTW syndrome represents a spectrum of clinical presentations. Although involvement of the spinal cord is uncommon, the manifestations of this syndrome may include both intradural and extradural AVMs in addition to various tumors.

Adult↗
PubMedDate not supplied

The newborn foot: diagnosis and management of common conditions.

An assessment of the foot should be a part of every newborn physical examination. The newborn foot, although complex in structure, can be examined quickly in any office setting. Many foot deformities are diagnosed immediately after birth, allowing for earlier and often more successful treatment. A neonate with a foot deformity can be a source of anxiety to parents. Adequate knowledge of commonly encountered neonatal foot problems enables the nurse to give appropriate anticipatory guidance to the parents. Foot abnormalities usually occur as isolated findings in an otherwise healthy newborn. However, these deformities can also be seen in newborns with underlying neuromuscular disorders and syndromic conditions. Common newborn foot abnormalities include equinovarus deformity (clubfoot), metatarsus adductus, calcaneovalgus, congenital vertical talus, polydactyly (supernumerary digits), and syndactyly (webbed toes). These common foot disorders, their treatment, and their prognosis are discussed. This article also discusses fundamental nursing implications needed to care for these young patients and their families.

Algorithms↗
PubMed1996

Morbidity associated with increased intracranial pressure in Apert and Pfeiffer syndromes: the need for long-term evaluation.

Although the incidence of elevated intracranial pressure is increased in patients with the craniosynostosis syndromes, the significance of these findings and their impact on clinical practice remain unclear. The morbidity related to elevated intracranial pressure in patients with Apert and Pfeiffer syndromes was reviewed. Sixty-seven patients with Apert syndrome and 39 patients with Pfeiffer syndrome were identified. The morbidity in 5 of the 106 patients (4.7 percent) was felt to be directly related to persistently elevated intracranial pressure. These included 2 deaths, 1 due to brainstem herniation after an elective subcranial Le Fort III advancement and 1 following removal of a lumboperitoneal shunt during the surgical release of syndactyly. The remaining 3 complications included bilateral papilledema detected 3.5 years after cranial vault remodeling in 1 patient and venous hypertension with excessive bleeding detected during elevation of the bicoronal flap in 2 patients, resulting in delay of a planned Le Fort III advancement. Patients with the syndromal craniosynostoses are at risk for complications resulting from elevated intracranial pressure from infancy through adulthood despite surgical attempts to increase cranial capacity in infancy. Clinical guidelines are proposed by which these patients should be evaluated beyond infancy in a regular fashion so as to reduce morbidity from unrecognized elevations in intracranial pressure.

Acrocephalosyndactylia↗
PubMed1997

The Apert syndrome hand: pathologic anatomy and clinical manifestations.

The Apert syndrome hand demonstrates many typical clinical features including syndactyly, symbrachyphalangism, and growth disturbances. This is due to the grossly abnormal anatomy of both the skeletal and soft-tissue structures associated with a progressive disease process. This paper presents a clinical, radiologic, and histologic analysis of the Apert syndrome hand anatomy and correlates it with the clinical manifestations. It also links hand and craniofacial dysplasia to other regions of the skeleton as well as the overall disease process. From our analysis, we conclude that there is a genetic anomaly causing variable and uncoordinated differentiation of the mesenchyme at the time of embryologic separation into its various skeletal components, particularly in the distal limb bud and craniofacial skeleton. This disease process continues postnatally in endochondral bone growth center malformation and malfunction as well as ectopic cartilage ossification in soft tissues. We discuss the role of abnormal musculotendinous anatomy and altered biomechanical forces in relation to these processes.

Acrocephalosyndactylia↗
PubMed1998

Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.

Apert syndrome is a clinically distinctive condition characterized by craniosynostosis, mid-face hypoplasia, and severe symmetrical syndactyly of the hands and feet. Recently, mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been associated with several craniosynostosis conditions including Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Mutations detected in Crouzon, Jackson-Weiss, and Pfeiffer syndromes are located at several sites in the FGFR2 gene. However, the mutational spectrum in Apert syndrome is remarkably narrow. Mutations detected thus far in Caucasian patients with this syndrome are exclusively transversions from cytosine to guanine at either nucleotide position 934 (C934G) or 937 (C937G) in the FGFR2 gene. To examine the possibility that the narrow mutational spectrum in Apert syndrome was a result of racial or environmental predilection, we studied three Apert syndrome patients from two unrelated Japanese families for C934G and C937G mutations. The C934G mutation was found in all three patients. This is the first demonstration of FGFR2 gene mutations in Japanese patients. Our evidence that the C934G mutation identified in Caucasian patients also occurs among Japanese patients excludes the possibility of racial or environmental predilection for this mutation. Nucleotide position 934 is a mutational hotspot of the FGFR2 gene in Japanese patients as well, although the mechanism by which the mutation occurs remains to be clarified. Whether C937G is a mutational hotspot in Japanese patients as well remains to be determined.

Acrocephalosyndactylia↗
PubMed1998

Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise?

We describe the case of a 37-week-old, small-for-gestational-age, white baby girl born with Baller-Gerold syndrome (BGS), with craniosynostosis and partial absence of the corpus callosum, absent radius, and syndactyly. She died at 2 months of age because of overwhelming sepsis that appeared to be due to an underlying humoral immunodeficiency. Unexpected sudden death has been reported in patients with BGS, but there has been no previous documentation of immunodeficiency. We suggest that a basic immunologic and hematologic workup should be part of the standard of care of all patients affected with BGS or related syndromes.

Craniosynostoses↗
PubMed1995

Progressive scoliosis in Dubowitz syndrome.

STUDY DESIGN: This case report describes a 17-year-old male with Dubowitz syndrome in whom a progressive left thoracic scoliosis developed that required surgical correction. OBJECTIVE: Scoliosis associated with Dubowitz syndrome had not been previously described among the orthopedic manifestations of this rare syndrome. A review of the literature and the surgical treatment of this patient is presented. SUMMARY OF BACKGROUND DATA: Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, craniofacial abnormalities, eczematous skin rash, delayed skeletal maturation, and shortness of stature. The orthopedic manifestations of this condition primarily involve the hands and feet with brachyclinodactyly of the fifth finger and syndactyly of the second and third toes. Spinal deformity in these individuals is not well described in the literature. METHODS: Over a 2-year period, the patient's scoliosis progressed to 88 degrees, resulting in severe truncal imbalance without neurologic sequelae. A posterior spinal fusion with segment instrumentation alone was used to correct the deformity. RESULTS: After surgery, excellent restoration of spine sagittal and coronal plane alignment was achieved, resulting in improved sitting and standing balance. CONCLUSION: Patients with Dubowitz syndrome may be at risk of having a progressive, rigid scoliosis. These individuals may need to be observed over a prolonged period for the development of spinal deformity because of the potential for extended delay in skeletal maturation.

Abnormalities, Multiple↗
PubMed2002

Malleolus externus plasty for joint reconstruction in fibular aplasia: preliminary report of a new technique.

The instability of the upper and the lower ankle joint represents a serious problem in patients with fibular aplasia. None of the previous techniques demonstrated at least sufficient results. In this report we present a new technique of malleolus externus plasty applied in a 5 1/2-year-old boy with fibular aplasia (type II according to Coventry and Johnson or type Ib according to Achtermann and Kalamchi) with a 6 cm length deficiency of the lower leg and 1 cm of the upper leg. Furthermore, he showed a tibial antecurvation deformity of 20 degrees, a fourth ray foot with adduction deformity of the hindfoot, cutane syndactyly D 2-4, and a hallux varus. This new technique works on the following principle. A triangular iliac crest transplant is implanted with an apophysis and the annexing fascia glutealis, including the osseous part of the transplant, in the lateral distal tibia in a way that the growing apophyseal part lays distally covering the lateral talus. Gluteal fascia annexed to the apophysis was used for the reconstruction of a lateral tendon. Using a ring fixator the transplant is fixed and coincidentally the lower leg lengthened and the axis corrected. The axis deformity and the leg-length deficiency of 7 cm were equalized. The fixator could be removed after 6 months. Radiologically, an entire integration of the iliac crest transplant was found. Magnetic resonance imaging showed it had sufficient circulation. The reexamination 2.5 years later demonstrated a simultaneous growth of the malleolus externus and the distal tibia and stable ankle joints with sufficient mobility and full weight-bearing capability. For support of the foot the boy uses ready-made shoes with curved arch supports. In conclusion, using this new technique an individually adapted lateral malleolus with growth-potential can be constructed that stabilizes the foot and the ankle joints. Thus, reluxations of the foot specifically in relation to lengthening of lower legs can be avoided with concurrent preservation of the range of movement of the ankle joint.

Ankle Joint↗
PubMed1996

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary teeth, oligodontia, variable root length including dental radiculomegaly, heart defects and cutaneous syndactyly of the 2nd-3rd toes. Abnormalities present in only one of the two patients were a cleft palate and a transverse vaginal septum, respectively. There are numerous similarities between our two patients and the family described by Wilkie et al. ((1993): Clin Dysmorphol 2: 114-119) and all may be examples of the same entity.

Abnormalities, Multiple↗