New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects

1998 ◽  
Vol 80 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Alex Duval ◽  
Odile Boute ◽  
Louise Devisme ◽  
Anne S. Valat ◽  
Sylvie Manouvrier
Keyword(s):  
Autosomal Recessive ◽  
Skeletal Anomalies

scholarly journals Orthopaedic Aspects of SAMS Syndrome

2020 ◽  
Author(s):  
Dirk E. Schrander ◽  
Heleen M. Staal ◽  
Colin A. Johnson ◽  
Alistair Calder ◽  
Neeti Ghali ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Developmental Disorder ◽  
Primary Diagnosis ◽  
Skeletal Anomalies ◽  
Skeletal Abnormalities ◽  
Mandibular Hypoplasia ◽  
Canal Atresia

AbstractThe combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. To the present date, only four affected individuals have been reported. There are several striking orthopaedic diagnoses within the SAMS syndrome. In particular, the scapulohumoral synostosis and the bilateral congenital ventral dislocation of the hips. The purpose of this report is to underline the importance of recognizing pathognomic features of SAMS syndrome. Whenever a bilateral congenital ventral dislocation of the hips and/or a scapulohumoral synostosis is found or clinically suspected, SAMS syndrome should be considered as the primary diagnosis until proven otherwise.

Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder

2004 ◽  
Vol 66 (1) ◽  
pp. 23-29 ◽  
Author(s):  
LX Rodríguez-Rojas ◽  
D García-Cruz ◽  
R Mendoza-Topete ◽  
LB Barba ◽  
MT Barrios ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Skeletal Anomalies

scholarly journals Acromesomelic Dysplasia with Interstitial Lung Disease: A Unique Association

2018 ◽  
Vol 04 (01) ◽  
pp. 029-031
Author(s):  
Chinnu Sasikumar ◽  
Ketaki Utpat ◽  
Unnati Desai ◽  
Jyotsna M Joshi
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Skeletal Dysplasia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Skeletal Dysplasias ◽  
Skeletal Anomalies ◽  
Unique Association

ABSTRACTAcromesomelic dysplasia is an extremely uncommon skeletal dysplasia with an autosomal recessive inheritance. It is characterized by a constellation of skeletal anomalies. Respiratory impediments have been sporadically reported earlier in various skeletal dysplasias. However, respiratory affection in acromesomelic dysplasia has not been elucidated earlier. We herein report a case of acromesomelic dysplasia associated with interstitial lung disease (ILD). Diagnosis of acromesomelic dysplasia was based on radiographs of whole skeleton.

scholarly journals Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

2004 ◽  
Vol 59 (2) ◽  
pp. 89-92 ◽  
Author(s):  
Lilian Maria José Albano ◽  
Paula Priscila Ohara Sakae ◽  
Marta Maria Galli Bozzo Mataloun ◽  
Clea Rodrigues Leone ◽  
Débora R. Bertola ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Craniofacial Abnormalities ◽  
Genetic Syndromes ◽  
Abdominal Ultrasonography ◽  
Skeletal Anomalies ◽  
Bilateral Hydronephrosis ◽  
Important Clue ◽  
Renal Malformations ◽  
Coarse Facies

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.

scholarly journals Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies

2020 ◽  
Vol 34 (6) ◽  
pp. 500-502
Author(s):  
Dong Hoon Shin ◽  
Ah Reum Kim ◽  
Hye In Woo ◽  
Ja-Hyun Jang ◽  
Woong-Yang Park ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Korean Patient ◽  
Skeletal Anomalies ◽  
Pathogenic Variants

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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