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PubMed2006

Adams-Oliver syndrome and isolated aplasia cutis congenita in two siblings.

Adams-Oliver syndrome is a rare congenital anomaly complex characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. We present a 9-year-old girl with a large, congenital scalp defect on her vertex, without underlying bone defect. Brachydactyly and syndactylia of her toes were also evident. Her 13-year-older brother had an 8 x 5 cm scalp defect without any limb defects (isolated ACC).

Adolescent↗
PubMed2004

Reconstruction of a congenital midpalatal hairy polyp.

Hairy polyps (dermoids or oronasopharyngeal teratomas) are a type of congenital tumour that contain elements of bigerminal origin (ectoderm and mesoderm). We describe a baby who presented with a hairy polyp of the hard palate protruding from the mouth. This was not causing respiratory distress but she had feeding difficulties. She was successfully operated on the age of 5 days, the defect was reconstructed with hairless skin of the mass and she was able to suck after a month.

Female↗
PubMed1990

Two unusual congenital anomalies of the tricuspid valve.

We describe two unusual congenital anomalies of the tricuspid valve discovered incidentally at autopsy. One is an abnormal attachment of the tricuspid septal leaflet to one of two posterior papillary muscles with a concomitant fusion of the right ventricular septal and anterior papillary muscles in a patient with ectodermal dysplasia. The other involves a fenestration defect of the septal leaflet of the tricuspid valve in a patient with aortic stenosis, coronary artery atherosclerosis, and cardiac amyloidosis.

Adolescent↗
PubMed2007

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

We describe a son of consanguineous parents with congenital scalp defects, transverse limb abnormalities, hypoplasia of the corpus callosum and bilateral falciform retinal folds. Aplasia cutis congenita with transverse limb defects are features of Adams-Oliver syndrome, which is usually inherited as an autosomal dominant condition. The association of bilateral retinal folds and brain abnormalities with scalp defects and terminal limb defects has only once been previously described. It is possible that these cases represent a severe variant of Adams-Oliver syndrome. We, however, suggest that they may characterize a new, distinct, autosomal recessive syndrome, involving vascular disruption.

Adult↗
PubMed2004

p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly.

Ectrodactyly is a congenital limb malformation that involves a central reduction defect of the hands and/or feet which is frequently associated with other phenotypic abnormalities. The condition appears to be genetically heterogeneous and recently it has been demonstrated that mutations in the p63 gene, a homologue of the tumor suppressor gene p53, are the cause of at least four autosomal dominant genetic syndromes which feature ectrodactyly: ectrodactyly, ectodermal dysplasia, and facial clefting (EEC), split hand/split foot malformation (SHFM), limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth syndrome (ADULT). In this study, genetic analysis of the p63 gene in a group of 13 patients with ectrodactyly (syndromic and isolated) was performed. Four patients with syndromic ectrodactyly had p63 heterozygous point mutations that affect the DNA binding domain of the protein. One of these subjects exhibited the typical features of EEC syndrome as well as ankyloblepharon being, to our knowledge, the first case combining these traits. This finding supports the view of a clinical overlap in this group of autosomal dominant syndromes caused by p63 mutations and demonstrates that there are exceptions in the previously established p63 genotype-phenotype correlation.

Adult↗
PubMed2002

White blood cell defects: molecular discoveries and clinical management.

In this review, we present the most recent discoveries at the molecular level in white blood cell defects, and explain how their identification helped us to understand the underlying pathophysiology and directed our approach in clinical management. These lately discovered genes, relevant to immune disorders of mononuclear phagocytes and neutrophils, include defects in the interferon gamma (IFNg)/interleukin 12 (IL-12) pathway, such as IFNg receptor (IFNgR) defects, IL-12 defect, IL-12 receptor (IL-12R) defect, and signal transducer and activator of transcription 1 (STAT-1) defect. We have also included NF-kappaB essential modifier (NEMO) defects, which lead to X-linked ectodermal dysplasia, with or without lymphedema and osteopetrosis, and a wide range of involvement of the immune system, which can mimic the hyper-IgM phenotype. Neutrophil-specific granule deficiency and neutrophil elastase deficiency are discussed, the latter being the molecular defect in both cyclic neutropenia and in some sporadic cases of severe congenital neutropenia.

Hematologic Diseases↗
PubMed1994

Isolated congenital atrichia in an Omani kindred.

Congenital atrichia may occur isolated or with associated defects. The isolated variant is especially uncommon. Sporadic and familial cases have been rarely reported. We present a large inbred kindred from Oman where 22 affected members with this disorder were found over six generations. The male-to-female ratio was 1:1.4. No associated ectodermal or other defects were noted. A typical autosomal recessive mode of inheritance was documented. Though inbreeding was high, anticipated quasidominance was observed only once.

Alopecia↗
PubMed2005

Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation.

Congenital hyponychia and anonychia are rare malformations which may form part of syndromes such as nail-patella syndrome, ectodermal dysplasias and brachydactylies, or may occur as an isolated finding. Congenital hyponychia and anonychia are frequently accompanied by underlying skeletal abnormalities. A 20-year-old woman showed congenital bilateral hypoplasia or aplasia of the second, third and fourth toenails with corresponding phalanx dysplasia or aplasia of the affected toes. Malformations of the hands or other congenital defects were absent. The findings in this patient do not exactly fit any known entities. Our clinical observation prompted us to review the literature on congenital hyponychia/anonychia and to summarize recent advances in understanding molecular events in nail development. In conclusion, the association of nail anomalies with aplasia and/or hypoplasia of corresponding middle and/or distal phalanges supports the hypothesis of bone-dependent nail formation.

Adult↗
PubMed1997

Development of the thymus.

Proper development of the thymus is critical for an individual to acquire full immune capability. A full complement of the components that participate in thymic development, interacting with each other at the correct time, is required for maturation. In order to establish the microenvironment necessary for T-cell differentiation, the epithelial primordium of the thymus must expand from pharyngeal endoderm with the aid of contributions from the ectoderm. Experimental studies have established the importance of mesenchymal derivatives from the neural crest in functional development of the epithelial primordium. Interfering with this process inhibits thymic development in a manner similar to that observed in congenital conditions such as the DiGeorge syndrome and the fetal alcohol syndrome. These observations provide clues to understanding the origin of defects in thymus-dependent immunity, and point the way to studies that will expand our understanding of the controls that are involved in genetic and environmental factors impacting on this process.

Animals↗
PubMed1996

A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities.

Drosophila patched is a segment polarity gene required for the correct patterning of larval segments and imaginal discs during fly development and has a close functional relationship with hedgehog. We have isolated a complete human PATCHED cDNA sequence, which encodes a putative protein of 1296 amino acids, and displays 39% identity and 60% similarity to the Drosophila PATCHED protein. Hydropathy analysis suggests that human PATCHED is an integral membrane protein with a pattern of hydrophobic and hydrophilic stretches nearly identical to that of Drosophila patched. In the developing mouse embryo, patched is initially detected within the ventral neural tube and later in the somites and limb buds. Expression in the limb buds is restricted to the posterior ectoderm surrounding the zone of polarizing activity. The results show that patched is expressed in target tissues of sonic hedgehog, a murine homolog of Drosophila hedgehog suggesting that patched/hedgehog interactions have been conserved during evolution. Human PATCHED maps to human chromosome 9q22.3, the candidate region for the nevoid basal cell carcinoma syndrome. Patched expression is compatible with the congenital defects observed in the nevoid basal cell carcinoma syndrome.

Amino Acid Sequence↗
PubMed2003

Pathogenesis of split-hand/split-foot malformation.

Split-hand/split-foot malformation (SHFM), also known as ectrodactyly, is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays. SHFM may occur as an isolated entity or as part of a syndrome. Both forms are frequently found in association with chromosomal rearrangements such as deletions or translocations. Detailed studies of a number of mouse models for ectrodactyly have revealed that a failure to maintain median apical ectodermal ridge (AER) signalling is the main pathogenic mechanism. A number of factors complicate the identification of the genetic defects underlying human ectrodactyly: the limited number of families linked to each SHFM locus, the large number of morphogens involved in limb development, the complex interactions between these morphogens, the involvement of modifier genes, and the presumed involvement of multiple genes or long-range regulatory elements in some cases of ectrodactyly. So far, the only mutations known to underlie SHFM in humans have been found in the TP63 gene. The identification of novel human and mouse mutations for ectrodactyly will enhance our understanding of AER functions and the pathogenesis of ectrodactyly.

Abnormalities, Multiple↗
PubMed1992

Aplasia cutis congenita reminiscent of the lines of Blaschko.

A male newborn showing congenital symmetrical abdominal skin defects and an alopecia on the scalp following a spiral pattern is described. The pattern of distribution of both skin anomalies was reminiscent of the lines of Blaschko, indicating that somatic mosaicism is the most probable cause for the defects.

Abdomen↗
PubMed1995

Formin isoforms are differentially expressed in the mouse embryo and are required for normal expression of fgf-4 and shh in the limb bud.

Mice homozygous for the recessive limb deformity (ld) mutation display both limb and renal defects. The limb defects, oligodactyly and syndactyly, have been traced to improper differentiation of the apical ectodermal ridge (AER) and shortening of the anteroposterior limb axis. The renal defects, usually aplasia, are thought to result from failure of ureteric bud outgrowth. Since the ld locus gives rise to multiple RNA isoforms encoding several different proteins (termed formins), we wished to understand their role in the formation of these organs. Therefore, we first examined the embryonic expression patterns of the four major ld mRNA isoforms. Isoforms I, II and III (all containing a basic amino terminus) are expressed in dorsal root ganglia, cranial ganglia and the developing kidney including the ureteric bud. Isoform IV (containing an acidic amino terminus) is expressed in the notochord, the somites, the apical ectodermal ridge (AER) of the limb bud and the developing kidney including the ureteric bud. Using a lacZ reporter assay in transgenic mice, we show that this differential expression of isoform IV results from distinct regulatory sequences upstream of its first exon. These expression patterns suggest that all four isoforms may be involved in ureteric bud outgrowth, while isoform IV may be involved in AER differentiation. To define further the developmental consequences of the ld limb defect, we analyzed the expression of a number of genes thought to play a role in limb development. Most significantly, we find that although the AERs of ld limb buds express several AER markers, they do not express detectable levels of fibroblast growth factor 4 (fgf-4), which has been proposed to be the AER signal to the mesoderm. Thus we conclude that one or more formins are necessary to initiate and/or maintain fgf-4 production in the distal limb. Since ld limbs form distal structures such as digits, we further conclude that while fgf-4 is capable of supporting distal limb outgrowth in manipulated limbs, it is not essential for distal outgrowth in normal limb development. In addition, ld limbs show a severe decrease in the expression of several mesodermal markers, including sonic hedgehog (shh), a marker for the polarizing region and Hoxd-12, a marker for posterior mesoderm. We propose that incomplete differentiation of the AER in ld limb buds leads to reduction of polarizing activity and defects along the anteroposterior axis.

Animals↗
PubMed1978

Prevalence of growth hormone deficiency in children with cleft lip or palate.

Two hundred children 7 to 14 years of age with isolated cleft defects of the lip, palate, or both were surveyed for stature. Twelve percent were less than the third percentile in height and were designated "short." All of the short children received an endocrine evaluation. Endogenous growth hormone was examined after two days' pretreatment with stilbesteral. Four of the 25 short children with CLP had total, and four had partial, GH deficiency. Three of the GH-deficient patients were also deficient in ACTH or TSH. In contrast, in a series of 75 short (less than third percentile) children 7 to 14 years of age without cleft defect or other apparent congenital abnormality, only two had total and two had partial GH deficiency. The data suggest that children with isolated CLP have short stature about four times more often, and GH-deficiency about 40 times more often, than children without CLP. The increased prevalence of GH-deficiency may stem from the embryologic relation of adenohypophysis and oral ectoderm.

Adolescent↗
PubMed2006

X-chromosome inactivation: role in skin disease expression.

UNLABELLED: The occurrence of X inactivation in mammals has the consequence that all women are functional mosaics. In X-linked skin disorders, Lyonization usually gives rise to a mosaic pattern, as manifest by the appearance of the lines of Blaschko. This arrangement of lesions is observed in male-lethal X-linked traits, such as incontinentia pigmenti, focal dermal hypoplasia, Conradi-Hünermann-Happle syndrome, oral-facial-digital syndrome type 1 and MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, as well as in various X-linked non-lethal phenotypes, such as hypohidrotic ectodermal dysplasia of Christ-Siemens-Touraine, IFAP (ichthyosis follicularis-alopecia-photophobia) syndrome and X-linked dyskeratosis congenita. Analogous X-inactivation patterns have been documented in human bones, teeth, eyes and, possibly, the brain. Patterns that are distinct from the lines of Blaschko are also seen, such as the lateralization observed in CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, and the chequerboard pattern seen in women heterozygous for X-linked congenital hypertrichosis. Exceptional cases of either severe or absent involvement in a woman heterozygous for an X-linked trait can be explained by skewing of X inactivation. Some X-linked skin disorders are caused by genes that escape inactivation, which is why heterozygous female 'carriers' of these disorders do not show mosaicism. A well-known example is X-linked recessive ichthyosis due to steroid sulphatase deficiency, the locus for which is situated at the tip of the short arm of the X chromosome and does not undergo Lyonization. On the other hand, in the case of Fabry disease, the gene encoding alpha-galactosidase A is subject to inactivation. Remarkably, however, the skin lesions of women do not show a mosaic pattern. CONCLUSION: In the various X-linked skin disorders, affected women show quite dissimilar degrees of involvement and forms of manifestation because X inactivation may give rise to different patterns of functional mosaicism. Paradoxically, no such pattern is observed in women with Fabry disease. Like many X-linked diseases, Fabry disease should neither be called recessive nor dominant, because these dichotomous terms are obscured by the mechanism of X inactivation.

Fabry Disease↗
PubMedDate not supplied

Implant-prosthodontic treatment for special care patients: a case series study.

PURPOSE: The aim of the study was to assess implant survival and complications with implants and prostheses in patients exhibiting a variety of systemic diseases and congenital defects. MATERIALS AND METHODS: Patients with specific medical conditions are regularly treated at the Department of Prosthodontics, University of Bern, Switzerland. All those who had received implant-prosthodontic treatment during the past 12 years were reexamined for this study. Among these patients the following diseases were observed: cleft lip/palate (n = 8), Down syndrome (n = 3), Sjogren syndrome and scleroderma (n = 2), ectodermal dysplasia (n = 4), developmental retardation (n = 2), chronic leukemia (n = 2), lichen planus (n = 1), cerebral palsy (n = 1), deaf-muteness (n = 1), amyotrophic lateral sclerosis (n = 1). At the time of the treatment the mean age was 55.6 years. ITI implants had been placed according to a standard protocol with local anesthesia, except for one patient in whom full anesthesia was used. One hundred three implants were loaded and supported a total of 34 fixed or removable prostheses. All patients were appointed to a regular maintenance care program. In the context of the present study, all but 1 patient were reexamined clinically. New radiographs were obtained, and the implants and prostheses assessed. Additional information was obtained from regular records in the patients' charts. RESULTS: Three implants were lost in the healing phase, and 1 implant was replaced. Only 1 patient with 4 implants was lost from the study (she had passed away). The survival rate of the loaded implants was 100%. In 1 patient, peri-implant bony defects were detected around all 3 intraforaminal implants. The prosthetic plan was maintained in all patients, and they continued to wear the originally planned type of prosthesis. Complications included insufficient hygiene, soft tissue hyperplasia, extraction of remaining teeth, and minor maintenance or repair of the prostheses. CONCLUSIONS: So far, the mostly unknown implications and possible risks for the process of osseointegration and long-term maintenance in patients with such rare diseases and defects has resulted in a rather restricted application of implants. However, from the present results, it appears that implants can successfully be placed and maintained. This is ascribed in part to a strict maintenance care program provided by the caregivers and to a high compliance of the patients who participated in this program to perform good oral hygiene.

Adult↗
PubMed1985

[Clinical and roentgenological study of the hands in synbrachydactyly, constriction band syndrome and cleft hand complex].

One hundred and six cases of synbrachydactyly, 63 cases of constriction band syndrome and 69 cases of cleft hand complex were clinically and roentgenologically studied and the following results were obtained. Synbrachydactyly is a group of hand anomalies in which the bone reduction appears transversely, and its severest form is a hand missing all the hand bones and the distal portion of the forearm, and with rudimentary digits on the stump. The association of dermal syndactyly or pectoralis muscle defect frequently seen in the milder cases of synbrachydactyly would be a secondary change to mesodermal hypoplasia or a related, but isolated malformation. Cleft hand complex which includes ordinary cleft hand, central ray polydactyly and central ray osseous syndactyly is a group of hand anomalies basically due to an ectodermal abnormality of separation of the digits. However, it is frequently associated with mesodermal hypoplasia or defect of various severity. The hand malformation in constriction band syndrome has a definite characteristic that the area of bone reduction is limited in phalanges.

Female↗