scholarly journals A newborn with Dubowitz syndrome: a case report

2014 ◽  
Author(s):  
Özkan İlhan ◽  
Senem Alkan ◽  
Yaşar Bekir Kublay ◽  
Esra Arun Özer
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Ventricular Septal Defect ◽  
Short Stature ◽  
Skin Eruption ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Recessive Disorder ◽  
Severe Mental Retardation ◽  
Dubowitz Syndrome

Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high narrow, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we heard the requirement to report this case because of rarity.

A case report of seckel syndrome

2018 ◽  
Vol 10 (2) ◽  
pp. 39-42
Author(s):  
Chaitanya R Uppin
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Birth Weight ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Narrow Face ◽  
Seckel Syndrome ◽  
Small Head ◽  
Autosomal Recessive Pattern

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000) genetically heterogeneous autosomal recessive disorder presenting at birth. Seckel described the disease on the basis of two cases he had studied in Chicago as well as 13 cases on nanocephalic dwarfs reported in the literature over a 200-year period. It is Characterized by dwarfism prenatally resulting in low birth weight, abnormally small head with a “bird‑headed” like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia) and mental retardation. Other facial features include abnormally large eyes and narrow face. This syndrome has an autosomal recessive pattern of inheritance. A case of Seckel syndrome that was reported is described in this article.

scholarly journals Bardet Biedl Syndrome: A Case Report

2019 ◽  
Vol 9 (2) ◽  
pp. 162-164
Author(s):  
Md Masud Un Nabi ◽  
Md Faruque Pathan ◽  
Milton Barua
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Liver Enzymes ◽  
Autosomal Recessive Disorder ◽  
Bardet Biedl Syndrome ◽  
Elevated Liver Enzymes ◽  
Hormonal Evaluation

Bardet Biedl syndrome is a rare heterogenous autosomal recessive disorder. A very few cases were reported in Bangladesh. A 12-year-old boy presented with childhood obesity, polydactyly in all 4 limbs, bilateral gynaecomastia, acanthosisnigricans, night blindness and mental retardation. After hormonal evaluation he was found to have hypogonadotrophichypogonadism, dislipidaemia, renal impairment, elevated liver enzymes and retinitis pigmentosa. We advised him to reduce weight and implemented and weight reducing diet. Levothyroxine and metformin were started. He was scheduled for eye check-up every 3 months and follow up at endocrinology. Birdem Med J 2019; 9(2): 162-164

scholarly journals Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome – A Rare Case Report

2021 ◽  
Vol 24 (1) ◽  
pp. E009-E013
Author(s):  
DIR Choudhury ◽  
Saikat DasGupta ◽  
Mauin Uddin ◽  
Siddhartha Shankar Howlader ◽  
PK Chanda ◽  
...  
Keyword(s):  
Case Report ◽  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Surgical Repair ◽  
Autosomal Recessive Disorder ◽  
Cardiac Defects ◽  
Rare Case Report

Ellis-Van Creveld (EVC) syndrome is an autosomal recessive disorder. Around 150 cases are described in published literature and in Bangladesh, it is even rare.  The patient usually comes with short stature, dental deformity, and cardiac deformity. Here, we present the case of a patient with ostium primum atrial septal defect (ASD) with moderate mitral regurgitation who underwent surgical repair of ASD and mitral valve replacement.

Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: An autosomal recessive disorder?

1989 ◽  
Vol 32 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Dale F. Nordenberg ◽  
Brian Hanna ◽  
Jean-Claude Fouron ◽  
Vazken M. Der Kaloustian ◽  
John M. Opitz ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Coarctation Of The Aorta ◽  
Autosomal Recessive Disorder

Management of Platelets in a Persian Girl with the Tetralogy_Pantalogy of Fallot (Tof_Pof): A Case Report Study

2020 ◽  
Author(s):  
Bahram Alamdary Badlou
Keyword(s):  
Case Report ◽  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Sleep Disorders ◽  
Social Life ◽  
Rare Case ◽  
Septal Defect ◽  
Old Persian ◽  
Underlying Mechanisms ◽  
The Relationship

We report a rare case of unrepaired Tetralogy_Pantalogy of Fallot (TOF_POF) in a 20 years old Persian girl Mrs Zeynab S., who presented with cyanotic finger tops appearance, ongoing chronic thrombolytic destruction processes, and remarkable thrombocytopenia [1,2], heart ventricular septal defect (VSD), and might atrial septal defect (ASD), anxiety, sleep disorders, nightmares, and limited social life. Additionally, the relationship between underlying mechanisms, possible treatments of the thrombocytopenia, erythrocytosis, and unrepaired cardiovascular leakages remains unknown.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

scholarly journals Case Report: Ascending Aortic Pseudo-Aneurysm Following Ventricular Septal Defect Repair in a 4-Year-Old Girl

2021 ◽  
Vol 9 ◽  
Author(s):  
Xinya Li ◽  
Hong Zhou ◽  
Rui Zhang ◽  
Jing Zhao ◽  
Tian Li ◽  
...  
Keyword(s):  
Case Report ◽  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Circulatory Arrest ◽  
Massive Hemorrhage ◽  
Purse String ◽  
Defect Repair ◽  
Life Threatening ◽  
Pseudo Aneurysm ◽  
Computed Tomograph

Pseudo-aneurysm is a fatal disease, and the main cause of death is massive hemorrhage secondary to the rupture of the aneurysm. This case report aims to evaluate the effects of pseudo-aneurysm excision procedure on the disease. A 4-year-old girl was readmitted on the 20th day after ventricular septal defect (VSD) closure procedure with a high fever of 40°C; aortic pseudo-aneurysm was suspected based on a spherical cystic echo (82 × 76 mm) of the ascending aorta which was detected by ultrasonic cardiogram, and the diagnosis was confirmed by an aortic computed tomograph angiography (CTA) examination and intraoperative findings. Treatment included emergency pseudo-aneurysm excision procedure and antibiotic therapy. The aortic pseudo-aneurysm was surgically removed under deep hypothermia and circulatory arrest. Antibiotics were applied according to the bacterial culture results. The pseudo-aneurysm was excised successfully, and the patient achieved a good recovery. Our case suggests that the postoperative ascending aortic pseudo-aneurysm was probably due to inappropriate purse-string suture and/or local or systematic infection, so extra precautions should be taken to avoid this life-threatening complication.

Sign in / Sign up

Export Citation Format

Share Document