scholarly journals Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Meltem Özdemir ◽  
Rasime Pelin Kavak ◽  
Önder Eraslan

Meromelia is a rare skeletal abnormality characterized by the partial absence of at least one limb. Several mechanisms have been postulated to explain the etiopathogenesis of the disorder. Most of the cases of meromelia are reported to be sporadic. It can occur either in isolation or with other congenital malformations. VACTERL association, gastroschisis, atrial septal defect, proximal femoral focal deficiency, and fibular hemimelia are the congenital abnormalities reported to be in association with meromelia. However, no other congenital abnormalities in association with meromelia have been recorded to date. We herein present an unusual case of bilateral upper limb meromelia accompanied by unilateral oligodactyly and brachymesophalangy of the foot.

Author(s):  
Rosa Lillo ◽  
Angelica Bibiana Delogu ◽  
Gessica Ingrasciotta ◽  
Gianluigi Perri ◽  
Maria Grandinetti ◽  
...  

A woman complaining of dyspnea and chest pain since childhood, was referred to our hospital with an initial diagnosis of biventricular hypertrophic cardiomyopathy. Multimodality imaging evaluation revealed massive right ventricular (RV) hypertrophy and severe RV outflow tract obstruction, with a final diagnosis of double chambered RV associated with small ventricular septal defect with right-to-left shunt and right partial anomalous pulmonary vein return. This represents an uncommon combination of congenital abnormalities, extremely rarely diagnosed in adulthood.


2005 ◽  
Vol 8 (1) ◽  
pp. 23 ◽  
Author(s):  
Sanjay Kumar ◽  
Bharati Sinha

Chylopericardium after intrapericardial cardiac operations is extremely rare. We present an unusual case of postoperative chylopericardium with cardiac tamponade following atrial septal defect repair, and we comment on the clinical course and treatment.


2021 ◽  
Vol 76 (4) ◽  
pp. 341-350
Author(s):  
Sergey M. Voevodin ◽  
Tatiana V. Shemanaeva ◽  
Alyona V. Serova

Background.Oligohydramnion in the first half of pregnancy, combined with congenital abnormalities in the fetus has objective difficulties in diagnosis. The morphology features and type of defects associated with oligohydramnion, which manifests in the first half of pregnancy, are not sufficiently studied at the present stage. Aims to evaluate the clinical significance of diagnosing oligohydramnion in the first half of pregnancy in women with congenital fetal malformations. Materials and methods.The analysis of the course of pregnancy and perinatal outcomes in 77 women with low water content in combination with congenital malformations of the fetus and 72 patients with a normal amount of amniotic fluid and no congenital malformations of the fetus was performed. The patients of the main group were divided into two subgroups depending on the severity of oligohydramnion: the 1st subgroup (n = 54) patients with severe oligohydramnion and the 2nd subgroup (n = 23) patients with moderate oligohydramnion. The amount of amniotic fluid was determined by 3D/4D ultrasound (1321 weeks of gestation) and the structure of fetal abnormalities associated with oligohydramnion was analyzed. We evaluated perinatal outcomes in women with congenital malformations of the fetus in combination with oligohydramnion and the effect of its severity on the outcome of pregnancy. Results.In the main group (n = 77), fetal abnormalities were detected in patients: urinary system 39 (50.6%), respiratory system 4 (5.2%), heart 1 (1.3%), chromosomal and genetic abnormalities 14 (18.2%), central nervous system 3 (3.9%), osseous system 3 (3.9%), multiple 13 (16.9%). In the main group (n = 77), pregnancy was terminated for medical indications in 47 (61%) cases, in 6 (7.8%) spontaneous miscarriage occurred, in 5 (6.5%) antenatal fetal death. 19 (24.7%) children were born alive, and surgical treatment in the neonatal period was required in 8 (10.4%) cases. In the 1st subgroup (n = 54) in 53 (98.1%) cases, there was a loss of the fetus, in 1 (1.9%) the newborn died on the 9th day. In the 2nd subgroup (n = 23), fetal death occurred in 5 (21.7%) cases, 18 (78.3%) children were born alive, and 8 (44.4%) newborns were operated on in the neonatal period. In the control group, all pregnancies ended with the birth of healthy children. A decrease in ultrasound imaging of internal organs in the fetus was observed when a pregnant woman was obese (BMI more than 35). Conclusions.Oligohydramnion in the first half of pregnancy in combination with fetal malformation should be considered an extremely unfavorable clinical sign for the prognosis of pregnancy and the health of the fetus and newborn. 3D/4D ultrasound scanning allows you to reliably determine oligohydramnion in the first half of pregnancy, and the degree of its severity to assume the nature of complications.


2012 ◽  
Vol 21 (4) ◽  
pp. 229-230 ◽  
Author(s):  
Joseph W. Marchese ◽  
Matthew G. Mullen ◽  
John H. Doherty

2003 ◽  
Vol 82 (8) ◽  
pp. 626-627 ◽  
Author(s):  
Narayanan Prepageran ◽  
Rajagopalan Raman

Cervical rib is a congenital phenomenon that usually occurs in association with upper-limb neurovascular symptoms. The presence of a cervical rib displaces the great vessels that cross the thoracic outlet superiorly and proceed into the neck. We report an unusual case of iatrogenic hemorrhage during a tracheostomy in a patient whose right subclavian artery had been displaced by a cervical rib. Our aim is to alert surgeons to the hidden risks of this phenomenon.


Animals ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1532
Author(s):  
Di Muro G. ◽  
Cagnotti G. ◽  
Bellino C. ◽  
Capucchio M.T. ◽  
Colombino E. ◽  
...  

Congenital malformations of the central nervous system (CNS) can affect the CNS alone or the CNS and craniofacial structures. Here, we report an unusual and complex congenital cephalic malformation observed in a 3-day-old male crossbreed calf. Clinical examination disclosed a dome-shaped cranial vault, a flat face with a short snout, a median cleft lip, and increased intraorbital distance. The frontal region of the head was remarkable for a fluctuant, sac-like protrusion covered with haired skin. Neurologic findings suggested a multifocal intracranial lesion affecting the prosencephalon and the central vestibular system. While pathological and histopathological findings posited for a presumptive diagnosis of either hydranencephaly or holoprosencephaly associated with multiple congenital facial abnormalities, not all the findings could be definitely attributed to either of the two encephalic malformations alone. To our knowledge, a similar combination of severe congenital abnormalities affecting both the CNS and the craniofacial structures has not been reported in calves to date.


2019 ◽  
Vol 36 (7) ◽  
pp. 1423-1426
Author(s):  
Wei-Min Zhang ◽  
Hai-xu Zhu ◽  
Aizezi Maimaitiaili ◽  
Naibi Ayibieke ◽  
Tangsakar Ermek ◽  
...  

2002 ◽  
Vol 10 (4) ◽  
pp. 356-358
Author(s):  
Murray H Kown ◽  
Luca Vricella ◽  
Christopher T Salerno ◽  
David N Rosenthal ◽  
Michael D Black

Complete atrioventricular septal defect generally presents early in life with symptoms of congestive heart failure. Untreated, patients almost universally develop irreversible pulmonary hypertension. We present an unusual case of a Down's syndrome patient whose septal defect first presented at 20 years of age.


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