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marfanoid habitus

Maria Zerkaoui, Leigh A M Demain, Imane Cherkaoui Jaouad, Ilham Ratbi, Karima Amjoud, Jill E Urquhart, James O'Sullivan, William G Newman, Abdelaziz Sefiani
The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis...
August 21, 2017: Clinical Dysmorphology
Ji Yoon Han, In Goo Lee, Soyoung Shin, Myungshin Kim, Ja Hyun Jang, Joonhong Park
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder involving more than 100 genes known to date. Here, we describe a Korean male infant with global developmental delay. He had neither facial dysmorphism nor skeletal abnormalities. Bayley scale of infant and toddler development third edition (Bayley-III) measured at age of 2 years revealed marked global developmental delays without Marfanoid habitus, structural brain abnormalities, or epilepsy. The patient's cognitive, motor, and language developmental ages were 8-9 months, 12 months, and 9 months, respectively...
October 2017: European Journal of Medical Genetics
Nikolaos Fassiadis, Sofia Lampaki, Paul Zarogoulidis, Drosos Tsavlis, Theodora Tsiouda, Ioanna Kougioumtzi, Nikolaos Machairiotis, Pavlos Pavlidis, Charalampos Charalampidis, Kosmas Tsakiridis
Isolated polycystic liver disease (PCLD) has not been associated with aneurysms and concomitant PLD has not been reported previously in association with bilateral popliteal aneurysms. A case of a middle-aged man with PLD, marfanoid habitus and bilateral popliteal aneurysms is presented.
May 2016: Annals of Translational Medicine
Nicole Knöpfel, Ana Martín-Santiago, Elsa Puerto-Carranza
No abstract text is available yet for this article.
August 1, 2016: JAMA Dermatology
Rafal Pankowski, Marek Roclawski, Krzysztof Dziegiel, Marcin Ceynowa, Marcin Mikulicz, Tomasz Mazurek, Wojciech Kloc
This is to report a case of 16-year-old girl with transient right lower limb monoplegia as a result of femoral artery ischemia detected by multimodal intraoperative spinal cord neuromonitoring (MISNM) during posterior correction surgery of adolescent idiopathic scoliosis.A patient with a marfanoid body habitus and LENKE IA type scoliosis with the right thoracic curve of 48° of Cobb angle was admitted for posterior spinal fusion from Th6 to L2. After selective pedicle screws instrumentation and corrective maneuvers motor evoked potentials (MEP) began to decrease with no concomitant changes in somato-sensory evoked potentials recordings...
February 2016: Medicine (Baltimore)
Ali Al Kaissi, Vladimir Kenis, Maher Ben Ghachem, Jochen Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
BACKGROUND: The clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse and the natural history of the disease is, to a certain extent, different from one patient to another. METHODS: In a series of 11 patients (eight girls and three boys, aged 0 - 16 years), variable clinical presentations were the landmarks of these patients. At birth, all of our patients manifested short great toes in a valgus position...
March 2016: Journal of Clinical Medicine Research
Martina Owens, Emma Kivuva, Anthony Quinn, Paul Brennan, Richard Caswell, Hana Lango Allen, Bijay Vaidya, Sian Ellard
BACKGROUND: Mucosal neuromas, thickened corneal nerves and marfanoid body habitus are characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B) and often provide an early clue to the diagnosis of the syndrome. Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'...
May 2016: Clinical Endocrinology
Sendhil Rajan, Ghazala Zaidi, Gaurav Agarwal, Anjali Mishra, Amit Agarwal, Saroj Kanta Mishra, Eesh Bhatia
INTRODUCTION: Pheochromocytoma (PCC) manifests in up to 50% of MEN2 patients. We correlated the clinico-pathological features of MEN2-associated PCC (MEN-PCC) with RET mutations and compared them with non-MEN adrenal-PCCs. METHODS: In this retrospective single institution study on a large PCC database (n = 208, 1997-2014) 24 MEN-PCC patients with known RET mutations were reviewed. Excluding 7 with incomplete data, the study cohort of 17 MEN-PCC patients from 11 kindreds (M:F::7:10) was identified...
March 2016: World Journal of Surgery
A Gocentas, N Jascaniniene, M Pasek, W Przybylski, E Matulyte, D Mieliauskaite, K Kwilecki, J Jaszczanin
BACKGROUND: There is no literature regarding joint mobility in children of the Central and Eastern Europe. Studies describing clinical characteristics and functional outcomes are still needed. The aim of this study was to assess the prevalence of generalised joint hypermobility (GJH) in the group of school-aged children from Vilnius, the capital city of Lithuania, in relation to different cut-off values of the Beighton score (BS), and to identify possible patients with joint hypermobility syndrome...
2016: Folia Morphologica (Warsz)
Karl Hackmann, Andreas Rump, Stefan A Haas, Johannes R Lemke, Jean-Pierre Fryns, Andreas Tzschach, Dagmar Wieczorek, Beate Albrecht, Alma Kuechler, Tim Ripperger, Albrecht Kobelt, Konrad Oexle, Sigrid Tinschert, Evelin Schrock, Vera M Kalscheuer, Nataliya Di Donato
The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation...
January 2016: American Journal of Medical Genetics. Part A
Marie Rouzaud, Franck Boralevi
A 9-year-old boy presented with a 6-year history of asymptomatic papules on his tongue, along with chronic constipation and abdominal discomfort since infancy. On physical examination, he was noted to have a marfanoid habitus, coarse facies, tooth malposition, and multiple soft, yellow papules..
August 20, 2015: New England Journal of Medicine
Vijaysinh Pati, George Cherian
We report the case of a 17-year-old male with Marfanoid habitus who presented with deep cyanosis, haematemesis, dyspnoea and platypnoea. He had oesophageal varices, indicating portal hypertension, with mildly deranged liver function. His arterial blood gas (ABG) revealed hypoxia and orthodeoxia. Contrast-enhanced echocardiography with agitated saline and a 99m Technetium macro-aggregated albumin perfusion lung scan confirmed intrapulmonary shunting. Pulmonary angiogram showed multiple, small diffuse pulmonary arteriovenous fistulae scattered all over the lungs and predominantly in the bases of the lungs...
December 2014: Journal of the Association of Physicians of India
Francisco Martinez, Purificación Marín-Reina, Amparo Sanchis-Calvo, Antonio Perez-Aytés, Silvestre Oltra, Mónica Roselló, Sonia Mayo, Sandra Monfort, Jorge Pantoja, Carmen Orellana
BACKGROUND: Only 15 point mutations in NFIX gene have been reported so far, nine of them cause the Marshall-Smith syndrome (MSS) and the remaining mutations lead to an overgrowth disorder with a less severe phenotype, defined as Sotos-like. METHODS: The clinical findings in three patients with MSS and two patients with a Sotos-like phenotype are presented. Analysis of the NFIX gene was performed both by conventional or next-generation sequencing. RESULTS: Five de novo mutations in NFIX gene were identified, four of them not previously reported...
November 2015: Pediatric Research
D T Collins, E M Mannina, M Mendonca
Fragile X syndrome (FXS) is a congenital disorder caused by expansion of CGG trinucleotide repeat at the 5' end of the fragile X mental retardation gene 1 (FMR1) on the X chromosome that leads to chromosomal instability and diminished serum levels of fragile X mental retardation protein (FMRP). Afflicted individuals often have elongated features, marfanoid habitus, macroorchidism and intellectual impairment. Evolving literature suggests the condition may actually protect from malignancy while chromosomal instability would presumably elevate the risk...
October 2015: American Journal of Medical Genetics. Part A
Hiroki Yagi, Masaru Hatano, Norifumi Takeda, Saori Harada, Yukari Suzuki, Yuki Taniguchi, Yukako Shintani, Hiroyuki Morita, Norio Kanamori, Takeshi Aoyama, Masafumi Watanabe, Ichiro Manabe, Hiroshi Akazawa, Koichiro Kinugawa, Issei Komuro
Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-old woman who developed decompensated dilated cardiomyopathy. The patient did not have any mutations in the FBN1 or FBN2 genes, which are most commonly associated with Marfan syndrome and CCA, respectively. Although whether these two diseases are caused by a mutation(s) in the same gene or two different genes remains unknown, this case provides new clinical insight into the cardiovascular management of CCA...
2015: Internal Medicine
Norifumi Takeda, Hiroyuki Morita, Daishi Fujita, Ryo Inuzuka, Yuki Taniguchi, Yasushi Imai, Yasunobu Hirata, Issei Komuro
Congenital contractural arachnodactyly (CCA) is a connective tissue disease caused by mutations of the FBN2, which encodes fibrillin-2. CCA patients have a marfanoid habitus; however, aortic dilatation and/or dissection as observed in Marfan syndrome have been rarely documented. Here, we report on a Japanese familial case of CCA resulting from a FBN2 splicing mutation (IVS32+5g→a), which leads to exon 32 being skipped, and the patients developed aortic dilatation and type A dissection. Although CCA patients have been believed to have favorable prognoses, repetitive aortic imaging studies must be performed in some patients to detect possible aortic disease early, and genetic testing of FBN2 might be useful to identify such high-risk patients...
October 2015: American Journal of Medical Genetics. Part A
Geethalakshmi Sampathkumar, Narendrakumar Veerasigamani
Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings have also been reported. Herein we report a case of sporadic Perrault syndrome in 18-year-old female who presented to our hospital with deaf mutism and primary amenorrhoea. On evaluation, the patient had hypergonadotropic hypogonadism, streak gonads and a normal karyotype (46 XX)...
March 2015: Journal of Clinical and Diagnostic Research: JCDR
Karijn J Pijnenburg-Kleizen, Hanneke M van Santen, David A Koolen, Hedi L Claahsen-van der Grinten
BACKGROUND: Multiple endocrine neoplasia type 2b (MEN2B) is a rare syndrome characterised by the occurrence of medullary thyroid carcinoma at a young age in all patients, and phaeochromocytoma at a later age in half of the patients. Once a medullary thyroid carcinoma causes symptoms, it has usually already metastasised to the lymph nodes and curative treatment is seldom possible at that stage. CASE DESCRIPTION: We present two patients who had phenotypical characteristics of the MEN2B syndrome from a young age: mucosal neuromas, ptosis, a marfanoid habitus, gastrointestinal problems and crying without tears...
2015: Nederlands Tijdschrift Voor Geneeskunde
Jung Min Ko, Jun-Seok Bae, Jin Sun Choi, Kohji Miura, Hye Ran Lee, Ok-Hwa Kim, Nayoung K D Kim, Sun Kyung Oh, Keiichi Ozono, Choon-Ki Lee, In Ho Choi, Woong-Yang Park, Tae-Joon Cho
Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the big toe, scoliosis, ankle valgus deformity, coxa valga, slipped capital femoral epiphysis, and aortic root dilatation...
May 2015: American Journal of Medical Genetics. Part A
Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, Carlo Fusco, Chiara Diquigiovanni, Margit Nõukas, Martin Sauk, Ants Kurg, Francesca Rivieri, Nenad Blau, Georg F Hoffmann, Alka Chaubey, Charles E Schwartz, Giovanni Romeo, Elena Bonora, Livia Garavelli, Marco Seri
The causative variant in a consanguineous family in which the three patients (two siblings and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial dysmorphisms, chronic diarrhea and progressive kyphoscoliosis, has been identified through whole exome sequencing (WES) analysis. WES study identified a homozygous DDC variant in the patients, c.1123C>T, resulting in p.Arg375Cys missense substitution. Mutations in DDC cause a recessive metabolic disorder (aromatic amino acid decarboxylase, AADC, deficiency, OMIM #608643) characterized by hypotonia, oculogyric crises, excessive sweating, temperature instability, dystonia, severe neurologic dysfunction in infancy, and specific abnormalities of neurotransmitters and their metabolites in the cerebrospinal fluid (CSF)...
April 1, 2015: Gene
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