Multiple Congenital Anomalies/Mental Retardation Syndrome With Multiple Circumferential Skin Creases: A New Syndrome?
ABSTRACT We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices. He had also ureterocele, hypospadias, and others anomalies. The magnetic resonance imaging of the brain showed hypoplastic vermis, hypoplastic corpus callosum, and dilatation of ventricles. Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal. To the best of our knowledge, this combination of anomalies has not been reported and this case may be a unique syndrome.
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ABSTRACT: Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings.Pediatric Dermatology 01/2012; 29(1):89-95. DOI:10.1111/j.1525-1470.2011.01403.x · 1.52 Impact Factor
Conference Paper: A generalized Rice channel for modeling mobile satellite link[Show abstract] [Hide abstract]
ABSTRACT: In this paper, a land mobile satellite model is presented. The new model is obtained by extension for the Hoyt model by adding to the received signal a light of sight component (LOS); this new model is the generalized Rice fading. Expressions of the probability density function (PDF) of level crossing rate (LCR) and average fade and no fade duration (AFD, ANFD) are given. Comparisons between results calculated from the model to simulations show reasonably good agreements. The generalized Rice model should be useful for designing of communications systems in light-shadowing environments.Control, Communications and Signal Processing, 2004. First International Symposium on; 02/2004
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ABSTRACT: Congenital symmetrical circumferential skin creases are a rare feature, often described as the "Michelin Tire Baby" syndrome and in general having a good prognosis. In some patients however, the circumferential skin creases are associated with other congenital malformations. We describe 2 unrelated patients presenting with multiple circumferential skin creases, growth retardation, developmental delay, a typical facial appearance and cleft palate. In literature, 6 patients with an almost identical clinical phenotype have been described. This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type".European journal of medical genetics 05/2011; 54(3):236-40. DOI:10.1016/j.ejmg.2011.01.003 · 1.49 Impact Factor