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At least 1,225 records · Page 68Linked to original sources
PubMed1982

[Cell death in organogenesis. Creodes and catastrophies. Cell non-death syndromes of face and hand deformities].

Cell death appears to be a paradoxical process but one that is necessary for embryonic and fetal morphogenesis, being a necessary stage in the morphogenetic creode of the organ considered, as dynamically and qualitatively modelled by René Thom. Subtle environmental processes result in "cell suicide" by liberation of the intracellular necrosis enzyme. This phenomenon exists just as naturally during separation of the fingers, fusion of the facial buds, and craniofacial suture growth. Dysfunction produces the syndrome of "cell non-death" as seen for example in Apert's syndrome in which a stomodeal cleft is associated with syndactylies and craniofaciostenosis.

Cell Survival↗
PubMed1982

[Familial observation of partial trisomy 6, and probable partial monosomy 18q by parental translocation].

Partial trisomy 6q (6q23 leads to qter), resulting from a non-balanced translocation 6/18, was detected in a child and his paternal uncle. Features of note in the uncle included micrognathia, scoliosis and mild mental retardation. The child presented a moderate hypertelorism, a flat nose bridge, carp-shaped mouth and minimal cutaneous syndactyly of the 2nd-3rd toes. These clinical signs have also been mentioned in the few cases of partial trisomy 6q described in the literature. In addition, our two patients present a cubital deviation of the fingers and, in the uncle, urinary tract malformations. The transmission of the 6/18 translocation in this family is discussed.

Child↗
PubMed1982

Retinoblastoma and chromosome 13 deletion.

Two cases of association of unilateral and bilateral retinoblastoma, respectively, with interstitial deletions of long arms of chromosome 13 are presented. The clinical pictures of both children corresponded to the moderate extent of the deletions, with both somatic and mental retardation in both children, and mild phenotypic manifestations (hypertelorism, slight epicanthi, mild facial hirsutism, and partial syndactyly in the child with unilateral retinoblastoma). Opinions concerning the association of chromosome 13 deletion with retinoblastoma are discussed.

Chromosome Deletion↗
PubMedDate not supplied

[A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical and X-ray examination and psychomotor assessment. Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types].

Part I - A case of acrocephalosyndactyly (ACS) type V, or Pfeiffer Syndrome, is described in a 2-year-old male child. This syndrome is characterized by acrocephaly, partial syndactyly of toes, broad thumbs and great toes, with normal intelligence. Our patient, instead, shows a middle degree of psychomotor delay. The family pedigree confirms an autosomal dominant inheritance mode. Diagnostic separation of the Pfeiffer Syndrome from the other craniostenosis and acrocephalosyndactyly syndromes is discussed. Neurosurgical assessment is mandatory in order to avoid cerebral and ocular damage due to chronically increased intracranial pressure. Part II - The Authors present some concepts on the surgical treatment of the craniofacial stenosis. A great importance is given to an early diagnosis and surgical treatment: to make this possible it is necessary to have some Hospital Centers really very specialized. The treatment of a child affected by Syndrome of Pfeiffer is described, giving more evidence to the operative technique and to its reasons.

Acrocephalosyndactylia↗
PubMed1981

Deformities of the great toe in Apert's syndrome.

Complex syndactyly of the hands and feet is a major deformity seen in children with Apert's syndrome. Also observed in the three patients presented in this paper was severe hallux valgus, which caused significant shoeing difficulties in two patients, for whom surgical correction was necessary. The two operative plans were based on the different underlying osseous abnormalities: (1) removal of the great toe with transposition of the second toe; (2) resection of the second ray with realignment of the great toe. Both procedures were successful from a functional and aesthetic viewpoint. When confronted with a child with Apert's syndrome who is having shoeing difficulty, assessment of the underlying osseous pathology is a mandatory step in the preoperative planning of surgical intervention.

Acrocephalosyndactylia↗
PubMed1981

New syndrome in three affected siblings.

A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. Prenatal diagnosis via ultrasonography wa successful in two fetuses at risk.

Abnormalities, Multiple↗
PubMed1980

Genetics and limb deficiencies.

The majority of cases of limb deficiencies are sporadic with no recurrence risk. This is particularly true for terminal transverse defects. Some terminal transverse defects, such as acheiropody, however, are part of genetic syndromes. There is a variety of radial defects, some of them autosomal dominant, some autosomal recessive, some due to chromosomal aberrations, and some sporadic. It is usually possible to indicate the mode of inheritance of radial defects by paying close attention to morphologic details of the limb malformation and to accompaying malformations. Most ulnar and fibular defects are sporadic, yet there are some genetic syndromes in which absence of ulna or fibula may occur. There are several domonant types of splithand-splitfoot. Classification is difficult, however, because of the great intrafamilial variability. Atypical nonhereditary splithand is usually unilateral. Most cases of unilateral total syndactyly probably belong to the same category.

Arm↗
PubMedDate not supplied

[Triploidy syndrome: a case report].

Triploidy is a complete extra set of chromosomes and results in a clinically recognizable lethal syndrome with hydatiform placental changes, severe intrauterine growth deficiency, cranial bone abnormalities, eye defects, malformed ears, syndactyly, genital anomalies, congenital heart defects and brain anomalies. Less severe are instances of diploid-tetraploid mixoploidy and patients are more likely to survive. The present report is another contribution to the knowledge of human triploidy: we describe a 69,XXY triploid male occurred to our observation.

Chromosome Aberrations↗
PubMed1995

[Surgical treatment of severe postburn flexion contractures of the hand].

The authors discuss the surgical tactics in multiple burn contractures of the palmar surface of the hand from experience in the treatment of 45 patients. The operation is conducted in one stage, with the manipulations performed in a definite order, which makes it much easier. The operation consists in correction of adduction of the thumb and the region of flexion contractures of the metacarpophalangeal articulations, palmar syndactyly, flexion contractures of the fingers, and contractions of the palm. Plastics with trapeziform grafts in combination of the palm. Plastics with trapeziform grafts in combination with free skin grafting makes it possible to correct all contractures in one stage and restore the function of the hand.

Burns↗
PubMed1995

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency was 71% and 26%, for the mutations S252W and P253R, respectively. These mutations occur in the linker region between immunoglobulin-like domains II and III, which are involved in activation of the receptor by ligand binding and dimerization. The fact that one patient did not have a mutation in the same exon suggests further genetic heterogeneity in Apert syndrome. The frequencies of occurrence or means for measurements of 29 different clinical features (including severity of craniofacial features, syndactyly of the hands and feet, and multisystem involvement) were determined for all patients and for the two subgroups defined by their mutations. Comparison between the subgroups for the different clinical features was performed and suggested no statistically significant differences. These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences.

Acrocephalosyndactylia↗
PubMed1995

Passive transfer of autoantibodies from a patient with mutilating epidermolysis bullosa acquisita induces specific alterations in the skin of neonatal mice.

BACKGROUND: Epidermolysis bullosa acquisita is a subepidermal bullous disease characterized by IgG autoantibodies directed against type VII collagen in anchoring fibrils. These autoantibodies are believed to play an important role in the pathogenesis of sub-lamina densa blister formation in this disease. OBSERVATIONS: We describe a patient with epidermolysis bullosa acquisita who has developed mutilating acral involvement with early syndactyly and extensive scarring lesions of the scalp. The patient's serum contains IgG autoantibodies that bind the dermal side of 1-mol/L sodium chloride-separated human skin (at a titer up to 5120), as determined by indirect immunofluorescence microscopy, and type VII collagen, as determined by immunoblot. The severity of this patient's disease and the height of his immune response to type VII collagen prompted us to assess the pathogenicity of his autoantibodies in a murine model. Purified IgG from our patient (or that from a healthy volunteer who served as a control) was administered subcutaneously to BALB/c mice (10 mg/g of body weight) on 2 consecutive days. Light microscopy of normal-appearing skin showed pronounced dermal edema and a dense granulocyte-rich infiltrate in the superficial dermis. Deposits of human IgG, murine C3, and the membrane attack complex of complement were found in the epidermal basement membrane of all experimental mice. Immunogold electron microscopy demonstrated that deposits of human IgG in an experimental subject were localized to anchoring fibrils. Serum samples from mice receiving IgG antibodies from our patient had high titers of circulating antibodies directed against the dermal side of 1-mol/L sodium chloride-separated human skin (titer, 640 to 1280). Light, immunofluorescence, and immunogold electron microscopic studies did not detect such specific alterations in any control mice. CONCLUSIONS: Acquired autoimmunity to type VII collagen in patients with epidermolysis bullosa acquisita may result in a clinical phenotype closely resembling that observed in patients with dystrophic epidermolysis bullosa. Passive transfer of purified IgG autoantibodies from a patient with severe epidermolysis bullosa acquisita to BALB/c mice produces histologic and immunopathologic alterations consistent with those seen in patients with this disease.

Adult↗
PubMed1995

Partial hydatidiform molar pregnancy presenting with severe preeclampsia prior to twenty weeks gestation: a case report and review of the literature.

A previously healthy 37-year-old Latin American female presented at 17 6/7 weeks gestation with clinical manifestations of preeclampsia. Ultrasound revealed a growth-retarded fetus with hypoechoic bowel, a thickened cystic placenta, bilateral multicystic adnexal masses, and oligohydramnios. The patient had laboratory evidence of hyperthyroidism and the maternal serum alpha-fetoprotein was 12.3 multiples of the mean. Subclinical disseminated intravascular coagulation rapidly ensued and an induction of labor was performed. This was productive of a 110-g female fetus with a markedly distended abdomen and syndactyly. The placenta weighted 650 g with gross hydropic changes throughout. The clinical aspects of this case and review of the literature on partial molar pregnancies will be discussed.

Adult↗
PubMed1994

Ano-cutaneous fistula associated with Bardet-Biedl syndrome in an African child.

An ano-cutaneous fistula associated with a Bardet-Biedl syndrome in a 12-year old African boy is described. The patient presented with mental retardation, obesity, syndactyly, polydactyly, retinitis pigmentosa and hypogenitalism. Past history revealed that he had an imperforated anus with anocutaneous fistula at birth, which was repaired successfully. The the best of our knowledge, it is the first case described in the African literature.

Africa↗
PubMedDate not supplied

[The Laurence-Moon-Bardet-Biedl syndrome].

The Laurence-Moon-Bardet-Biedl syndrome consists of: retinitis pigmentosa, adiposo-genital dystrophy, syndactyly, mental retardation. It is presented a patient with atypical retinitis pigmentosa--unilateral, sectorial and hypopigmentary form, as part of the Laurence-Moon-Bardet-Biedl syndrome.

Adolescent↗
PubMed1994

[An autopsy case of Smith-Lemli-Opitz syndrome].

A 17 month-old girl was found dead in her bed. The findings of a juditial autopsy revealed that she had a cleft palate, low-set and accessory ears, and syndactyly of right and left second and third toes and right third and fourth toes. Her birth size was small and subsequently she failed to thrive. Organ anomaly, such as atriaol septal defect, accessory spleens, and uterus bicornis bicollis were found. From these findings, this case was diagnosed as a Smith-Lemli-Opitz syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

[Cystic eye and anophthalmos in a child with multiple congenital abnormalities].

Cystic eye is a rare congenital disease representing a persistent primary ocular cyst cavity. A patient aged 2 is described with anophthalmia and cystic eye looking as an orbital tumor 25 x 35 mm in size. The infant suffered from delayed psychomotor and speech development. Ambilyacousia, thymomegaly, multiple hemangiomas of the skin, syndactyly, cryptorchidism, inguino-scrotal hernias were diagnosed. The totality of developmental abnormalities was a contraindication against anesthesia, therefore the proposed cystic eye enucleation with prosthesis implantation was not carried out.

Abnormalities, Multiple↗
PubMed1993

[Regional phacomatosis with cerebral AVMs and cavernous hemangioma of the skull--report of a case].

We report the coexistence of multiple arteriovenous malformations (AVMs) and hemangioma of the skull in a 38-year-old man with associated varicose veins in his scalp. The patient also had hypotrophy of all right limb tissues with skin pigmentation and syndactyly of both feet. CT scans revealed intraventricular hemorrhage and a hemangioma of the skull at the posterior fossa. Because of the location of the arteriovenous malformations, surgical evacuation and resection were not attempted. The hemangioma was totally removed to decompress the posterior fossa. A few cases of regional phacomatosis with intracranial AVMs have been reported, but we could not find a report of the coexistence of intracranial multiple AVMs and hemangioma of the skull with associated varicose veins of the scalp and skeletal hypotrophy. We discuss on the etiology of the coexistence of regional phacomatosis and hemangioma and on the difference between our case and typical regional phacomatosis.

Adult↗
PubMed1993

Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis.

Apert's syndrome, also known as acrocephalosyndactyly, is a rare type of premature craniofacial synostosis characterized by the clinical triad of cranial and facial malformations along with syndactyly of the hands and feet. Acne vulgaris involving atypical sites such as the upper extremities constitutes the dermatologic hallmark of this rare genodermatosis. We report a patient who demonstrates the classic findings of Apert's syndrome. Our patient also presented with severe hyperhidrosis, which may represent a new clinical finding not previously reported in association with this syndrome.

Acrocephalosyndactylia↗