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At least 1,747 records · Page 97Linked to original sources
PubMed1999

Witkop tooth and nail syndrome: report of two cases in a family.

Tooth and nail syndrome, an autosomal dominant condition, is characterized by hypodontia and nail dysplasia. Mandibular incisors, second molars and maxillary canines are the most frequently missing teeth. Tooth shape may vary and conical and narrow crowns are common. Nail dysplasia affects fingernails and toenails and is often more severe in childhood. Nails may be spoon-shaped, ridged, slow growing and easily broken. The clinical and radiographic features of a father and son presenting with this rare condition are described.

Adult↗
PubMed1998

Black hair follicular dysplasia, an autosomal recessive condition in dogs.

Using histology, a coat color abnormality and the subsequent hair loss were diagnosed as black hair follicular dysplasia. A pedigree analysis of an affected litter and literature review suggests that this is inherited as an autosomal recessive trait. The melanocyte stimulating hormone receptor gene is ruled out by using linkage analysis.

Animals↗
PubMed1997

Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia.

We report two pairs of siblings with the syndrome cranioectodermal dysplasia who have subsequently developed chronic renal failure secondary to tubulo-interstitial nephropathy. Renal disease has not been described before in this rare syndrome but has now occurred in four of the seven reported cases. Children with cranioectodermal dysplasia appear to be at significant risk of developing chronic renal failure. This is important information for clinicians looking after such children, and their families, when considering the long-term prognosis and management.

Child, Preschool↗
PubMed2003

Progressive vascular changes in a transgenic mouse model of squamous cell carcinoma.

Phage display was used to identify homing peptides for blood vessels in a mouse model of HPV16-induced epidermal carcinogenesis. One peptide, CSRPRRSEC, recognized the neovasculature in dysplastic skin but not in carcinomas. Two other peptides, with the sequences CGKRK and CDTRL, preferentially homed to neovasculature in tumors and, to a lesser extent, premalignant dysplasias. The peptides did not home to vessels in normal skin, other normal organs, or the stages in pancreatic islet carcinogenesis in another mouse model. The CGKRK peptide may recognize heparan sulfates in tumor vessels. The dysplasia-homing peptide is identical to a loop in kallikrein-9 and may bind a kallikrein inhibitor or substrate. Thus, characteristics of the angiogenic vasculature distinguish premalignant and malignant stages of skin tumorigenesis.

Animals↗
PubMed1978

[Progressive combined immunity defect with ectomesodermal dysplasia (author's transl)].

A boy with dysplastic features had to be treated for recurrent diarrhoea and bronchitis since his tenth month of life. Defects in humoral and cellular immunity were found. The ecto-mesodermal abnormalities are so characteristic that in connection with the immunological changes it seems to be justified to assume a yet undescribed syndrome.

Antibody Formation↗
PubMed1989

A new autosomal recessive disorder resembling Weaver syndrome.

Most reported cases of Weaver syndrome are sporadic, and the mode of inheritance is still unclear. We describe two (male and female) sibs born to consanguineous Bedouin parents with manifestations resembling Weaver syndrome. Both sibs had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse low-pitched cry. One of them had an accelerated harmonic skeletal maturation. Differentiating features from Weaver syndrome are discussed, and autosomal recessive inheritance is suggested.

Abnormalities, Multiple↗
PubMed1992

Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X-linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed.

Alopecia↗
PubMed1993

ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.

We describe a family with at least seven living persons who are affected by an hitherto undescribed autosomal-dominant syndrome with variable expression, bearing close resemblance to the EEC syndrome and related disorders. The main manifestations are hypodontia and/or early loss of permanent teeth, ectrodactyly, obstruction of lacrimal ducts, onychodysplasia, and excessive freckling. We propose the acronym ADULT (acro-dermato-ungual-lacrimal-tooth)-syndrome for this condition.

Abnormalities, Multiple↗
PubMed1983

Craniocervical malformations.

This short survey summarises the important craniocervical dysplasias, the malformations accompanying primary neuroectodermal and secondary lesions of the neural structures and their coverings, and complex malformations. The interpretation, classification and the identification of the static and/or dynamic biomechanical pathogenesis is a prerequisite for the correct diagnosis and for assessing the indications for and the choice of any operation to be adopted.

Axis, Cervical Vertebra↗
PubMed1971

Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.

The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.

Abnormalities, Multiple↗
PubMed2006

Aplasia cutis congenita (epitheliogenesis imperfecta) in swine: observations from a large breeding herd.

Epitheliogenesis imperfecta has been reported in several animal species, and its inheritance is suspected to be autosomal recessive. This term has been used to describe two different diseases, namely epidermolysis bullosa and aplasia cutis congenita, which are both grossly characterized by an absence of epidermis or mucosal epithelium and are most frequently reported on the distal limbs and oral cavity. Epitheliogenesis imperfecta has been described in swine, but the literature on the subject is scarce. To better characterize this condition, 70 piglets with congenital skin defects macroscopically compatible with epitheliogenesis imperfecta were examined. In all but 1 case, only 1 piglet per litter was affected. Of the affected piglets, 65 (93%) were male, suggesting a sex-related problem. More than half of the piglets had multiple skin lesions. All defects were located on the caudal half of the body, and none was found in the oral cavity. Most lesions were characterized by an absence of epidermis and part of the dermis and adnexae. Adnexal dysplasia was also observed at several sites, both with and without epitheliogenesis imperfecta, suggesting a developmental problem. Fluid-filled, congenital subcutaneous bullae were noted grossly on 7 piglets; their relationship, if any, with epitheliogenesis imperfecta remains unknown. As the term epitheliogenesis imperfecta has been used in cases of epidermolysis bullosa, the term aplasia cutis congenita seems to be more appropriate to describe these lesions in swine.

Animals↗
PubMed1989

Congenital soft tissue dysplasia: a new malformation entity and concept.

We report 185 children with clinical manifestations of various conditions classically described as giant hamartoma, angiodysplasia, congenital hypertrophy, congenital trophoedema, localised gigantism (e.g. macrodactyly), etc. It is proposed to group all these conditions into a single entity: congenital soft-tissue dysplasia (CSTD). According to recent advances in fundamental embryology and cell biology, CSTD appears to be a consequence of embryonal or fetal cell biosynthetic dysregulation. The concept of the CSTD entity leads to a common protocol for clinical investigation and a common therapeutic plan, with special reference to the stability and the benign nature of the condition. Treatment should be confined to improving function rather than attempting to correct cosmetic deficits.

Adolescent↗
PubMed1988

Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita.

Focal facial dermal dysplasia is the preferred designation for an inherited disorder characterized by congenital scarlike lesions on the temples. Review of the literature reveals a spectrum of associated facial anomalies that cannot be clearly divided into discrete clinical syndromes. To reconcile the apparent genetic diversity of previously reported cases, we postulate autosomal dominant inheritance with incomplete penetrance. An isolated case of a 4 1/2-month-old infant with typical bitemporal markings and otherwise normal facies is described.

Apgar Score↗
PubMed1994

Mulvihill-Smith syndrome: case report and review.

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.

Abnormalities, Multiple↗
PubMed1994

Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia.

A healthy 14-month-old boy had multiple, circular, scar-like depressions on both temples, which had been present since birth. Delivery had been normal, and had not required the use of forceps or other instruments. His mother and one sister had similar, but less obvious, lesions on the temples. The three affected family members had similar facial features, with laterally deficient eyebrows, and a prominent upper lip with down-turned mouth. Additional features in the baby were sparse lower eyelashes, medial epicanthal folds, and skin dimpling on one side of the chin. Focal facial dermal dysplasia (FFDD) denotes a condition in which there are bitemporal, round, scar-like lesions. It is inherited as an autosomal dominant trait with variable penetrance and expressivity, and there are no associated features. Setleis' syndrome is recessively inherited, and is characterized by similar bitemporal defects associated with other dysmorphic features, including deficient eyelashes and a prominent upper lip. This report of dominantly inherited bitemporal dermal defects with characteristic facies supports the idea that FFDD and Setleis' syndrome are a single disorder.

Adult↗
PubMed1983

Computer-tomographic investigations in malformations of the occipito-cervical junction.

The diagnosis of occipito-cervical dysplasias has been improved markedly by computer-tomography. Two millimetre transverse cuts with sagittal and coronal reconstructions are necessary. Based on nine cases with nearly all types of malformations it is shown that even complex osseous (mesodermal) malformations and dysplasias as well as isolated or combined neuroectodermal dysplasic or secondary compressive lesions of the medulla oblongata and cord can be detected. Transverse and AP diameters of the foramen magnum and spinal canal and the classical lines and angles can be measured. This time-consuming procedure will give more information than the classical radiological methods and avoid myelographic and cisternal examinations. Its disadvantages are the impossibility of dynamic functional studies and the length of the procedure.

Adolescent↗
PubMed2003

Radial dysplasia with localized cutis aplasia congenita.

We describe four cases of distal radial epiphyseal dysplasia associated with a localized area of cutis aplasia congenita over the dorsum of the distal forearm. The cutis aplasia was diagnosed at birth in all cases, but the radial dysplasia was not recognized until presentation to our orthopaedic department between the ages of 5 and 10 years. This association, the long-term implications and the requirement for follow-up until skeletal maturity have not previously been described. We emphasize the importance of continued monitoring of these patients as the effects of radial dysplasia did not become obvious for several years, and the potential benefit from achieving early skin cover with grafting rather than allowing healing by secondary intention is discussed. It is important to increase awareness of this condition so that early orthopaedic and plastic surgical opinions can be sought, in order to reduce the disabling effect on the underlying radius. In this way it may be possible to elucidate the cause and manage the condition satisfactorily at an earlier stage.

Bone Lengthening↗
PubMed2000

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.

Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each affecting a protein critical for orofacial development. Here we describe positional cloning of the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1; previously ED4; ref. 2), which we identify as PVRL1, encoding nectin-1, an immunoglobulin (Ig)-related transmembrane cell-cell adhesion molecule that is part of the NAP cell adhesion system. Nectin-1 is also the principal cell surface receptor for alpha-herpesviruses (HveC; ref. 7), and the high frequency of CLPED1 on Margarita Island in the Caribbean Sea might result from resistance of heterozygotes to infection by these viruses.

Amino Acid Sequence↗