craniosynostoses/obesidad

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Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

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We describe in two brothers an apparently novel syndrome comprising obesity, congenital hypothyroidism, neonatal colitis, cardiac biventricular hypertrophy, craniosynostosis, and developmental delay. The first brother presented with neonatal colitis and congenital hypothyroidism and died at age 5

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis.

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Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal

Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation.

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We report on a case with a partial monosomy for the regions 9p23 --> pter and 13p11 --> pter as a result of a de novo translocation (9p23;13p11). The patient, a 16-year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck.

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

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Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

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Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two sporadic cases, with syndromic ID/DD for whom array-Comparative Genomic

Carpenter syndrome.

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Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull

[Carpenter's syndrome].

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A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and

Cerebral malformations in Carpenter syndrome.

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The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of

The carpenter syndrome phenotype.

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Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as

Prediction formulae for sleep-disordered breathing.

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Prediction formulae for sleep-disordered breathing can be useful for excluding a diagnosis, establishing an a priori probability of having a positive test, and for prioritizing patient testing. In general, prediction models have high sensitivity but low specificity. In a study analyzing the

Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).

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Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

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Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases. In 15 out of 16 families previously

[Diagnosis and treatments of craniomaxillofacial deformities with OSDB].

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Obstructive sleep disordered breathing (USDB) is a common diseases which caused by upper airway(UA) occlusion, muscle tone problems and collapse of upper airway etc. The article introduces how to select surgical treatment protocol. First, it is necessary of PSG and upper airway evaluation. Then, it

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

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We report here on a RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter syndrome. All children presented with acrocephaly and polysyndactyly. However, intrafamilial variability was observed with variable severity of craniosynostosis ranging

Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

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In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. We discuss the relationship between this combination of clinical signs and

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