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At least 109 records · Page 6Linked to original sources
PubMed2003

Genitopatellar syndrome: expanding the phenotype.

Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations.

Facies↗
PubMed1978

Clinical, genetic, and histologic features of the trichoonychodental (TOD) syndrome.

A syndrome of scanty, fine, curled hair, thin dysplastic nails, taurodontic molars, hypoplastic-hypomature enamel, dysplasia of dentin, and hypohidrosis segregating as an autosomal dominant trait is described in a Japanese family. The patients received repeated doses of tetracycline during odontogenesis which fortuitously assisted in interpreting the pathogenesis of the dentin defect. The condition was previously described as familial congenital ectodermal dysplasia by Westerholm and as odontogenesis imperfecta by Siirilä and Heikinheimo. It is suggested that the name trichoonychodental (TOD) syndrome is a better descriptive term for the condition.

Chromosome Aberrations↗
PubMed1987

Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells) syndrome is a rare autosomal dominant form of congenital ectodermal dysplasia. It is characterized by coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and cleft lip and palate. To date, 12 patients have been reported; however, the diagnosis has been questioned in 3 of these patients. We report 2 additional patients, one of whom has nasal speech but not cleft palate, in contrast to all other reported patients. This entity must be distinguished from numerous other forms of ectodermal dysplasia, especially those forms that can be associated with oral clefts and/or ankyloblepharon.

Child↗
PubMed2004

[Occipital dermal sinus associated to a cerebellar abscess. Case].

Congenital dermal sinuses are tubular tracts which communicate the skin with deeper structures. It is a manifestation of defective separation of the ectoderm and neuroderm. The incidence is 1/2500-3000 births alive. Almost 10 % of congenital dermal sinuses are localized in the occipitocervical region. They are usually asymptomatic, unless an infectious process is concurrent (meningitis, abscess). We are presenting the case of a 12 months girl with unnoticed cutaneous stigmata in the occipital region, who was admitted with a meningeal syndrome and secondary neurological impairment. She had a cerebellar abscess and was treated with decompression by puncture of the abscess and antibiotics. When infection was resolved, congenital dermal sinus was excised. Process solves without morbidity. We reviewed the clinical and therapeutic features in cases reported previously in the literature.

Cerebellum↗
PubMed1981

Marshall syndrome: a condition resembling congenital syphilis.

Marshall syndrome (ectodermal dysplasia) was diagnosed in a 14-year-old boy and is thought to be the first case reported from West Africa. Because of the saddle-nose deformity and bilateral cataracts all patients suspected of having congenital syphilis should be investigated for ocular or auditory defects, which would confirm the diagnosis of ectodermal dysplasia.

Adolescent↗
PubMed1989

Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.

We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.

Abnormalities, Multiple↗
PubMed1976

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

Abnormalities, Multiple↗
PubMed1989

Solitary aortic arch artery. A result of surgical ablation of cardiac neural crest and nodose placode in the avian embryo.

Cells from the cardiac neural crest are essential for the normal development of both the heart and the great vessels. If cardiac neural crest is ablated surgically from Hamburger-Hamilton stage 9 chicken embryos, they will develop anomalies of both the heart and great vessels that are similar to anomalies that occur in humans. In the absence of cardiac neural crest, another area of neural ectoderm (nodose placode) provides replacement cells that are less competent than those of the neural crest. In this study, both the cardiac neural crest and the nodose placodes have been surgically ablated. A syndrome of unusual prevalence (47%) and severity was found among the survivors of this surgery, which was characterized by a large undivided aorta that arched dorsally without right or left deviation to become the dorsal aorta. There was no other tributary to the formation of the dorsal aorta. There were no ducti arteriosi, and the pulmonary arteries were both ectopic and hypoplastic. The brachiocephalic arteries were asymmetric and hypoplastic. The association of the aorta with the anlagen of the thyroid and thymus glands, as well as with the inferior ganglion of the vagus nerve, indicated that the solitary surviving aortic arch artery is that of arch III in this syndrome. These results establish a biological limit of the plasticity of the neural ectoderm and give a probable cellular basis for a lethal congenital septal defect.

Animals↗
PubMed1975

[Focal dermal hypoplasia with keratoconus, papillomatosis of esophagus and hidrocystomas (author's transl)].

Focal dermal hypoplasia (Goltz's syndrome, Goltz-Gorlin syndrome), an uncommon malady belonging to the group of congenital poikloderma, is characterized by its broad spectrum of meso-ectodermal defects involving the skin as well as the eyes, skeletal system and teeth. The case represented her is identical with the one published by Naegeli 1926, and contains some additional findings that have not yet been reported, namely: multiple hidrocystomas, bilateral keratoconus, papillomatosis of esophagus, hiatus hernia.

Abnormalities, Multiple↗
PubMed2005

The Ectodysplasin and NFkappaB signalling pathways in odontogenesis.

Hypohidrotic ectodermal dysplasia (HED) is a congenital disorder affecting organs of ectodermal origin including teeth, hair and sweat glands. Defects in Ectodysplasin (tabby), Edar (downless) and Edar associated death domain (Edaradd) (crinkled) cause HED in both humans and mice. Ectodysplasin is a tumour necrosis factor (TNF) superfamily member whose downstream signalling is transduced by the inhibitor of kappaB kinase (IKK) complex and inhibitors of kappaB (IkappaB) to activate the transcription factor NFkappaB. NFkappaB signalling is involved in a wide range of cellular processes and at each stage the different family members must be tightly regulated for each function. Recent data have demonstrated the importance of this signalling pathway in odontogenesis, particularly in the formation of cusps. Here we review recent advances in our understanding of Ectodysplasin/NFkappaB signalling in tooth development and in particular the central role of the IKK complex.

Animals↗
PubMed1995

Familial acanthosis nigricans with madarosis.

We report familial acanthosis nigricans affecting a 35-year-old woman, her 7-year-old son and 5-year-old daughter. Absence of the eyebrows and eyelashes was noted in this family. The mother had no axillary hair and her pubic hair was sparse. The boy also suffered from congenital heart disease and a congenital cataract in the left eye. The combination of acanthosis nigricans and ectodermal defects in this family may represent a distinct nosological entity.

Acanthosis Nigricans↗
PubMed1998

Costello syndrome.

Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain in later life. Cardiomyopathy is frequent but other visceral involvement is rare. Mild to moderate mental retardation is usual and most patients exhibit a characteristic sociable and friendly personality. The pathogenesis and molecular basis of the syndrome are unknown and the diagnosis is reliant on clinical expertise. Papillomata represent the most characteristic manifestation but may arise late in life. The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyperpigmented skin are characteristic enough to allow an early diagnosis. Most cases have been sporadic, suggesting de novo dominant mutations.

Abnormalities, Multiple↗
PubMed1984

Dysphagia in hypohidrotic ectodermal dysplasia. A case report.

The congenital ectodermal dysplasias are a rare group of hereditary disorders manifesting with variable defects in structures of ectodermal origin. This report describes a patient with the hypohidrotic form of ectodermal dysplasia who presented with dysphagia and pneumonia. He was shown to have laryngeal incompetence and it is postulated that this may be a mechanism for the recurrent chest infections reported in patients with this condition.

Deglutition Disorders↗
PubMed1993

Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission.

Pili torti is a rare hair shaft abnormality in which the hair is flattened and intervals twisted at irregular through 180 degrees about its axis. Pili torti may occur as a congenital defect or as an acquired disorder (secondary to patchy alopecia from a variety of causes). When it is congenital, it may be isolated and determined by an autosomal dominant gene or associated with various rare syndromes, including ectodermal dysplasias, neurological defects and metabolic disturbances. The association of neurosensory hearing loss and pili torti has been recognized as Bjornstad's syndrome since 1965. As far as we know, only 15 cases of this syndrome have been reported. We describe here three cases of Bjornstad's syndrome in one family.

Adolescent↗