Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter is a Variant of the Former

2003 ◽  
Vol 6 (3) ◽  
pp. 270-277 ◽  
Author(s):  
Dinesh Rakheja ◽  
Golder N. Wilson ◽  
Beverly B. Rogers
Keyword(s):  
Congenital Anomaly ◽  
Liver Tissue ◽  
Hirschsprung Disease ◽  
Mendelian Inheritance ◽  
Severe Form ◽  
Appendicular Skeleton ◽  
Multiple Congenital Anomaly ◽  
Nasal Bridge ◽  
Opitz Syndrome ◽  
The Right

We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RM-CAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd–3rd toes and left 5th–6th toes, right talipes varus and left talipes valgus, and fused L5–S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 ± 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.

Smith-Lemli-Opitz Syndrome

2017 ◽  
Author(s):  
Ryan W. Lee
Keyword(s):  
Congenital Anomaly ◽  
Inborn Error ◽  
Cholesterol Synthesis ◽  
Plasma Cholesterol ◽  
Autism Spectrum ◽  
Behavioral Phenotype ◽  
Facial Features ◽  
Multiple Congenital Anomaly ◽  
Opitz Syndrome

Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.

scholarly journals COVID - 19 AS A “SIGNIFICANT CIRCUMSTANCE” FOR RISK ASSESSMENT IN LIFE INSURANCE (IN AND AFTER THE PANDEMIC)

2021 ◽  
Author(s):  
Željka Primorac
Keyword(s):  
Risk Assessment ◽  
Health Status ◽  
Life Insurance ◽  
Personal Data ◽  
Severe Form ◽  
Insurance Contract ◽  
Hospital Treatment ◽  
Legal Norms ◽  
Legal Standards ◽  
The Right

The data on the health status of a policyholder represent a significant circumstance for risk assessment and concluding a life insurance contract, and are also legally relevant circumstances for exercising the rights from that contract. The author starts from a theoretical analysis of the perception of data on the health status of policyholders as personal data, comparing the right to confidentiality of such data with the duty to report them (before concluding a life insurance contract) in terms of reporting all circumstances relevant to the insurance risk assessment. In order to properly fulfil the obligation of pre-contractual nature, the paper analyses the legal norms governing this issue and also provides a comparative overview of the Croatian and German insurance legislation with special emphasis on the scope of health data that the insurer is authorised to require, the clarity of legal standards and legal insurance norms contained in the insurance questionnaires and the life insurance offer. Presenting the importance of COVID-19 infection and possible chronic consequences for human health, the author indicates the extent to which COVID-19 infection (mild or severe form of disease, possible need for hospital treatment) will have an impact on the design of new insurance questionnaires and the relevance of genetic testing results in the context of concluding future life insurance contracts.

scholarly journals SURGICAL TREATMENT OF ANOMALIES OF FIXATION OF THE COLON IN CHILDREN

2020 ◽  
Vol 19 (4) ◽  
pp. 32-36
Author(s):  
O. Bodnar
Keyword(s):  
Congenital Anomaly ◽  
Surgical Treatment ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Results Of Treatment ◽  
Left Diaphragm ◽  
Comparative Group ◽  
The Right ◽  
Paroxysmal Pain ◽  
Over Time

Pyrrhic disease is a congenital anomaly that occurs during embryogenesis due to the fixation of the splenic angle of the colon by a short and highly located left transverse-diaphragmatic ligament, creating a sharp bend and forming a "wellbore". In this case the passage of feces on a cross colon becomes difficult, there is also its sagging to a small pelvis. This pathology is characterized by paroxysmal pain (aggravated by exercise and after eating) and prolonged constipation, which progresses over time. Hilaiditis syndrome is a rather rare pathology in which there is an interposition of the hepatic angle of the colon between the liver and the diaphragm. There are permanent and intermittent localizations. The work generalizes the experience of evaluation of clinical manifestations and remote results of treatment of children with chronic colostasis caused by fixation abnormalities of the colon. 58 children were detected to have Payre’s disease, with Cyilaiditi’s syndrome – 3 children. 24 patients with Payre’s disease and 2 Cyilaiditi’s syndrome were operated on. To assess the effectiveness of surgery, children were divided into two groups: I group – comparative and II group - experienced. In I group (n=12 children) – the analysis of surgical treatment was performed traditionally. In II group (n=14 children) – the analysis of surgical treatment was conducted by means of the methods proposed. Traditional surgical treatment of Payre’s disease in children was followed by relapse of chronic constipation in 45,45%, pain in 50%, flatulence in 33,33% and failure of the ileocoecal closing apparatus in 100% of children. Unsatisfactory outcomes of surgical treatment of Cyilaiditi’s syndrome was observed in a child from the comparative group. Relapse of clinical symptoms to a lesser degree than before the surgery was found in 1 child from the experienced group. To treat Payre’s disease the following operation is proposed: intersection of the left diaphragm-colon ligament, resection of transverse colon and colofixation of the left bending of the colon. To treat Cyilaiditi’s syndrome (in case of dolichoascendocolon) the following operation is suggested: hepatopexy, resection of the right bending of the colon with ascending transversal anastomosis “end to end”, fixing of right bending of the colon. Their reasonability is being proved.

scholarly journals McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

2016 ◽  
Vol 89 (4) ◽  
pp. 559-564
Author(s):  
Iulian Raus ◽  
Roxana Elena Coroiu
Keyword(s):  
Fibrous Dysplasia ◽  
Insufficiency Fracture ◽  
Endocrine Disorders ◽  
Appendicular Skeleton ◽  
Laboratory Findings ◽  
Mccune Albright Syndrome ◽  
Magnetic Resonance Imaging Mri ◽  
Albright Syndrome ◽  
The Right ◽  
Mccune Albright

McCune–Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level.The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune – Albright syndrome.

scholarly journals Partial anomalous pulmonary venous connection detected during right pneumonectomy

2019 ◽  
Vol 30 (3) ◽  
pp. 497-498
Author(s):  
Bülent Mustafa Yenigün ◽  
Gökhan Kocaman ◽  
Ayşegül Gürsoy Çoruh ◽  
Rıfat Murat Akal
Keyword(s):  
Lung Cancer ◽  
Congenital Anomaly ◽  
Case Report ◽  
Surgical Treatment ◽  
Septal Defect ◽  
Lung Resection ◽  
Rare Congenital Anomaly ◽  
The Right ◽  
Anomalous Pulmonary Venous Connection ◽  
Lung Resections

Abstract Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital anomaly. Generally, it is seen on the right side and is associated with an atrial septal defect. Herein, we present a case of a 50-year-old male patient with a supracardiac type PAPVC detected during pneumonectomy for a right hilar mass. This is the second case report in the literature presenting surgical treatment of both lung cancer and PAPVC using pneumonectomy. Thoracic surgeons should be aware of this anomaly when they are planning to perform a major lung resection. If PAPVC and lung cancer are in the same lobe, anatomical lung resections including pneumonectomy can be safely performed.

scholarly journals Facial distortion due to chronic inflammation of unknown cause in a cat

2020 ◽  
Vol 6 (2) ◽  
pp. 205511692095720
Author(s):  
Lynelle R Johnson ◽  
Sarah A Vidal ◽  
Kelsey D Brust ◽  
M Kevin Keel ◽  
Michele A Steffey
Keyword(s):  
Nasal Cavity ◽  
Subcutaneous Tissue ◽  
Mass Lesion ◽  
Unknown Etiology ◽  
Activity Levels ◽  
Surgical Biopsy ◽  
Nasal Bridge ◽  
Upper Eyelid ◽  
Frontal Sinuses ◽  
The Right

Case summary An 8-year-old neutered male indoor cat was presented for evaluation of a year-long history of swelling over the bridge of the nose that extended from the subcutaneous tissue of the right upper eyelid to the dorsum of the skull. Intermittent regression of the mass lesion was reported with antibiotic or corticosteroid therapy; however, progressive swelling, malaise and hiding behavior persisted. CT revealed an aggressive osteolytic mass lesion in the right and left nasal cavities and extending into the frontal sinuses. Rhinoscopy using a 2.8 mm rigid telescope revealed somewhat normal-appearing turbinates rostrally and ventrally on the left side, with turbinate destruction on the right. After obtaining a biopsy from the right side of the nasal cavity, thick material filling the entire nasal cavity was visible caudally and was extracted endoscopically from a rostral approach. Surgical biopsy of the dorsal nasal bridge resulted in protrusion of inspissated material from the incision site. Rhinoscopic exploration revealed that the material extended into both frontal sinuses. Following extensive debridement and medical therapy, marked resolution of facial asymmetry was achieved. Relevance and novel information Facial distortion is often considered suggestive of a neoplastic process; however, it can also be seen with fungal and mycobacterial infections, and, in this case, an inflammatory condition of unknown etiology. In this cat, aggressive intervention and debridement of necrotic debris resulted in substantial bony remodeling of the skull and return to normal activity levels.

scholarly journals Noonan syndrome: a clinical and genetic study of 31 patients

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez
Keyword(s):  
Congenital Anomaly ◽  
Short Stature ◽  
Family Member ◽  
Genetic Study ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Clinical Findings ◽  
Multiple Congenital Anomaly ◽  
Genetic Characteristics ◽  
Cardiac Anomalies

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

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