1/45. Elattoproteus syndrome: delineation of an inverse form of proteus syndrome.A 7-year-old boy had partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of proteus syndrome. Paradoxically, however, he had only few and rather mild lesions of disproportionate overgrowth. This unusual case is taken as a clue to postulate the Elattoproteus syndrome, an inverse form of proteus syndrome. The paradoxical coexistence of hyperplastic and hypoplastic lesions may reflect a twin spot phenomenon. The patient would carry at the Proteus locus one allele giving rise to overgrowth of tissues (Pleioproteus allele--from Greek pleion, meaning plus), whereas the other allele would cause deficient growth of tissues (Elattoproteus allele--from Greek elatton, meaning minus). At an early stage of embryogenesis, somatic recombination would give rise to two different populations of cells homozygous for either allele. From a heuristic point of view, one may postulate the existence of the Elattoproteus syndrome, a purely inverse form of proteus syndrome that would develop in the absence of the Pleioproteus allele.- - - - - - - - - - ranking = 1keywords = dermal hypoplasia, hypoplasia (Clic here for more details about this article) |
2/45. Delleman syndrome: report of a case with a mild phenotype.Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of oculocerebrocutaneous syndrome with predominant and typical cutaneous involvement is reported.- - - - - - - - - - ranking = 4.4735008950798E-5keywords = focal (Clic here for more details about this article) |
3/45. Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome.We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia. Chronic atopic dermatitis, lateral deviation of the great toes, and cone-shaped epiphyses of the toes were observed. The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described.- - - - - - - - - - ranking = 0.0022968440163583keywords = hypoplasia (Clic here for more details about this article) |
4/45. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS.focal dermal hypoplasia (FDH) or Goltz syndrome is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. We report on a male infant with characteristic skin defects of the face, trunk and extremities, polysyndactyly and unusual ocular and brain findings. He had sclerocornea of the right eye, anterior persistent hyperplastic primary vitreous of the left eye and hydrocephalus. Clinical findings support the diagnosis of Goltz syndrome. The clinical picture of Goltz syndrome is compared with that of MIDAS syndrome.- - - - - - - - - - ranking = 0.99770315598364keywords = dermal hypoplasia, hypoplasia (Clic here for more details about this article) |
5/45. Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case.Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.- - - - - - - - - - ranking = 4.4735008950798E-5keywords = focal (Clic here for more details about this article) |
6/45. Cutis marmorata telangiectatica congenita.A case of cutis marmorata telangiectatica congenita (CMTC) is reported. A young girl had an unusual presentation with sclerosis in the skin lesions, senile features, hypoplasia of the mandible, transverse nail dystrophy, and transverse toe defects resembling Adams-Oliver syndrome. These associated abnormalities are very rare and some have not been documented before with CMTC. The possible relationship of CMTC with Adams-Oliver syndrome is also discussed.- - - - - - - - - - ranking = 0.0022968440163583keywords = hypoplasia (Clic here for more details about this article) |
7/45. Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome).We report a stillborn female infant with multiple internal and external anatomic abnormalities and mosaicism for isochromosome 12p. These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs, agenesis of pericardium, and Meckel's diverticulum. Karyotypic analysis on cord blood lymphocytes showed 10% mosaicism of 46,XX/47,XX, i(12p), and analysis of skin fibroblasts showed 50% mosaicism for the same karyotype. The parental karyotypes were normal. There are many reported cases describing the anomalies seen in isochromosome 12p. None of these cases, however, have displayed pericardial agenesis or aplasia cutis. The clinical and cytogenetic features of Pallister-Killian syndrome are reviewed.- - - - - - - - - - ranking = 0.00022367504475399keywords = focal (Clic here for more details about this article) |
8/45. Myocardial storage of chondroitin sulfate-containing moieties in costello syndrome patients with severe hypertrophic cardiomyopathy.costello syndrome is a distinctive multiple congenital anomaly syndrome, characterized by loose soft skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features, skeletal abnormalities, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy, tachycardia), predisposition to malignancy, developmental delays, and mental retardation. Previous studies with cultured fibroblasts from individuals with costello syndrome demonstrate excessive accumulation of chondroitin sulfate-bearing proteoglycans, associated with both impaired formation of elastic fibers and an unusually high rate of cellular proliferation. Despite multiple clinical reports of cardiac abnormalities, there has been only one previously published report describing post-mortem findings in hearts from costello syndrome patients. Here we provide a detailed description of the post-mortem findings of the hearts of three children with costello syndrome. Routine histological examination and results of targeted histochemical and immunohistochemical studies revealed that in addition to cardiomyocyte hypertrophy, these hearts also demonstrated massive pericellular and intracellular accumulation of chondroitin sulfate-bearing proteoglycans and a marked reduction of elastic fibers. Normal stroma was replaced by multifocal collagenous fibrosis. Most peculiar was the finding that the bulk of the chondroitin sulfate accumulated in these costello syndrome hearts is a chondroitin-6-sulfate. In contrast, deposition of chondroitin-4 sulfate was below the level detected in normal hearts. We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of costello syndrome.- - - - - - - - - - ranking = 4.4735008950798E-5keywords = focal (Clic here for more details about this article) |
9/45. Maxillofacial and dental manifestations in a patient with mandibulo-acral dysplasia.Mandibulo-acral dysplasia (MAD) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature. This report presents a patient with MAD, suffering from difficulty in mastication and speech, together with limited lip closure and aesthetic problems related to the clinical outcomes of the syndrome. The aim of reporting this case is to detail the first widely determined dental and maxillofacial abnormalities of a rare syndrome, mandibulo-acral dysplasia, and to contribute to the data regarding the etiology of consanguinity.- - - - - - - - - - ranking = 0.0022968440163583keywords = hypoplasia (Clic here for more details about this article) |
10/45. Tubular skin appendage, renal agenesis and popliteal web: a further example of the human homologue of disorganization (Ds).We describe a newborn infant with defects similar to those seen in mice heterozygous for the mutant disorganization (Ds) gene. The child had left popliteal webbing, left iliac bone hypoplasia, bifid scrotum, hypospadias, chordee deformity of the penis and a sacral dimple. Other anomalies included absence of the right kidney and a bizarre hamartomatous tubular skin pedicle on the left thigh. No obvious amniotic bands or oligohydramnios were noted. The similarity between the proband's anomalies, those in previously reported cases, and those found in mice support the possibility of a human homologue of the Ds gene.- - - - - - - - - - ranking = 0.0022968440163583keywords = hypoplasia (Clic here for more details about this article) |
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