Upper Extremity Anomalies

2019 ◽  
pp. 203-210
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Valproic Acid ◽  
Differential Diagnosis ◽  
Upper Extremity ◽  
Clinical Case ◽  
Background Information ◽  
Amniotic Band ◽  
Case Presentation ◽  
Vascular Disruption ◽  
Common Causes ◽  
Malformation Syndromes

This chapter reviews background information about the incidence, epidemiology, genetics, and other anomalies associated with common congenital anomalies of the upper extremity. The discussion reviews the differential diagnosis of transverse, longitudinal (amelia, radial, ulnar), intercalary (phocomelia), and central (split hand/foot) defects of the radius and ulna and combined upper and lower extremity defects. The chapter summarizes common causes of upper extremity anomalies, including amniotic band disruption sequence, teratogenic agents (misoprostol, thalidomide, valproic acid), vascular disruption, chromosome anomalies, and Mendelian congenital malformation syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with Holt–Oram syndrome.

Polydactyly

2019 ◽  
pp. 217-222
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Differential Diagnosis ◽  
Sex Ratio ◽  
Clinical Case ◽  
Renal Cysts ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Common Causes ◽  
Malformation Syndromes ◽  
Hands And Feet

This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly, craniosynsostosis, GI anomalies, macrocephaly, mocrpcephaly, renal cysts) are described. The discussion on the differential diagnosis of polydactyly summarizes its common causes, including teratogenic agents, diabetic embryopathy, chromosome anomalies, and congenital malformation syndromes caused by Mendelian traits. It gives recommendations for evaluation and management. A clinical case presentation features an infant with tibial hypoplasia/aplasia with polydactyly (Werner mesomelic syndrome).

Syndactyly

2019 ◽  
pp. 223-228
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Clinical Case ◽  
Recurrence Risk ◽  
Background Information ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomaly ◽  
Case Presentation ◽  
Bony Fusion ◽  
Common Causes ◽  
Incidence Risk ◽  
Associated Malformations

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, epidemiology, and some subtypes of syndactyly. Various unilateral and bilateral patterns of syndactyly, including common autosomal dominant isolated cutaneous syndactyly and rarer presentations of complex syndactyly with bony fusion, are reviewed. Associated malformations, such as small size, microcephaly, craniosynostois, facial dysmorphism, and other limb anomalies, that are often seen with syndactyly are presented. The discussion on the differential diagnosis of syndactyly summarizes its common causes, including teratogenic agents, chromosome anomalies, and Mendelian multiple congenital anomaly syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with oculo-dento-digital dysplasia.

Craniosynostoses

2019 ◽  
pp. 91-100
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Clinical Case ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Mendelian Disorders ◽  
Common Causes ◽  
Incidence Risk ◽  
Maternal Thyroid ◽  
The Relationship ◽  
Single Suture

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of single suture and multiple suture craniosynostosis including isolated and syndromic varieties. The discussion on the differential diagnosis of craniosynostosis summarizes its common causes, including teratogenic agents (fluconazole, maternal thyroid disorders, methotrexate, valproic acid), chromosome anomalies, and Mendelian disorders that involve extracranial malformations. The relationship between premature closure of cranial sutures of postnatal onset and positional plagiocephaly, prematurity, and microcephaly are examined. This chapter provides recommendations for testing, evaluation and management. A clinical case presentation features an infant with Saethre–Chotzen syndrome, whose mildly affected relatives had not been diagnosed.

Neural Tube Defects

2019 ◽  
pp. 133-138
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Clinical Case ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Mendelian Disorders ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of isolated and syndromic neural tube defects. The various subtypes of NTD are described including common, lethal and rare presentations such as sacral agenesis and anterior meningomyelocele. Prenatal therapy with in utero surgery is addressed. The discussion on the differential diagnosis of neural tube defects summarizes its common causes, including teratogenic agents, chromosome anomalies (trisomy 18), and Mendelian disorders that cause isolated NTDs and syndromic NTDs that are associated with malformations in other organ systems. The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with a lumbosacral meningomyelocele caused by valproic acid embryopathy.

Hirschsprung Disease

2019 ◽  
pp. 167-170
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Risk Factors ◽  
Clinical Case ◽  
Hirschsprung Disease ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Common Causes ◽  
Incidence Risk ◽  
Total Intestinal Aganglionosis ◽  
Intestinal Aganglionosis

This chapter reviews background information about the incidence, risk factors, sex ratio, genetics, family history, recurrence risk, and epidemiology of the various types of isolated and syndromic Hirschsprung disease. Distinctions that characterize long segment, short segment, zonal, total colonic, and total intestinal aganglionosis are reviewed. The discussion on the differential diagnosis of Hirschsprung disease summarizes its common causes, including chromosome anomalies (Down syndrome and recurrent microdeletions), and Mendelian traits associated with isolated disease and syndromic aganglionosis with non-GI malformations. This chapter includes gives recommendations for evaluation and management. A clinical case presentation features an SGA microcephalic infant who failed to pass meconium with Goldberg–Shprintzen syndrome.

scholarly journals Neonate born with ischemic limb to a COVID-19 positive mother: management and review of literature

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Shahana Perveen ◽  
Karmaine A. Millington ◽  
Suchitra Acharya ◽  
Amit Grag ◽  
Vita Boyar
Keyword(s):  
Differential Diagnosis ◽  
Compartment Syndrome ◽  
Upper Extremity ◽  
Preterm Neonate ◽  
Review Of Literature ◽  
Case Presentation ◽  
Ischemic Limb ◽  
History Of ◽  
Hand Amputation ◽  
Work Up

AbstractObjectivesTo describe challenges in diagnosis and treatment of congenital neonatal gangrene lesions associated with history of maternal coronavirus disease 2019 (COVID-19) infection.Case presentationA preterm neonate was born with upper extremity necrotic lesions and a history of active maternal COVID-19 infection. The etiology of his injury was challenging to deduce, despite extensive hypercoagulability work-up and biopsy of the lesion. Management, including partial forearm salvage and hand amputation is described.ConclusionsNeonatal gangrene has various etiologies, including compartment syndrome and intrauterine thromboembolic phenomena. Maternal COVID-19 can cause intrauterine thrombotic events and need to be considered in a differential diagnosis.

Lower Extremity Anomalies

2019 ◽  
pp. 211-216
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Lower Extremity ◽  
Congenital Anomalies ◽  
Clinical Case ◽  
Lower Limbs ◽  
Amniotic Band ◽  
Case Presentation ◽  
Combined Defects

This chapter reviews the incidence, epidemiology, genetics, and anatomical varieties of congenital anomalies of the lower extremity. Defects can be transverse, longitudinal, intercalary, or central and involve the femur, tibia, or fibula and there are combined defects and conditions affecting both upper and lower extremity. Isolated transverse defects are less common in the lower extremity than the upper but amniotic band disruption sequence can affect both upper and lower limbs. Adams Oliver syndrome affects both upper and lower limbs. Femoral facial syndrome is the most common lower extremity syndrome. Split hand/split foot is clinically heterogeneous and complex albeit with several well characterized syndromes including those caused by variants in TP63 and the 17p1.3. chromosome duplicaton syndrome . The clinical case presentation features an infant with fibular aplasia, tibial campomelia, and oligosyndactyly due to FATCO syndrome, a condition whose genetic cause is unknown.

Macrocephaly and Megalencephaly

2019 ◽  
pp. 103-108
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Differential Diagnosis ◽  
Tuberous Sclerosis ◽  
Basal Cell ◽  
Noonan Syndrome ◽  
Clinical Case ◽  
Single Gene ◽  
Case Presentation ◽  
Basal Cell Nevus Syndrome ◽  
Single Gene Disorders ◽  
Nevus Sebaceous

This chapter reviews isolated and syndromic causes of macrocephaly and megalencephaly. The two terms are usually but not always interchangeable. The differential diagnosis of macrocephaly includes familial macrocephaly, chromosome duplications and deletions, metabolic disorders and complex somatic mosaic conditions including CLOVES, MCAP and MPPH. Single gene disorders with macrocephaly include those in the Noonan syndrome spectrum (RASopathies). Syndromes with hemimegalencephaly, including linear nevus sebaceous and tuberous sclerosis are briefly reviewed. Many syndromes with macrocephaly have associated overgrowth and are covered in the Overgrowth chapter as well, including Weaver, Sotos and Malan syndromes. A clinical case presentation features an infant with basal cell nevus syndrome.

Primary Aldosteronism Complicated by Hypokalemic Rhabdomyolysis. A Clinical Case

2019 ◽  
Vol 2 (3) ◽  
pp. 110-114
Author(s):  
K. Skaletsky ◽  
E. Kosmacheva ◽  
N. Kizhvatova ◽  
V. Porhanov
Keyword(s):  
Differential Diagnosis ◽  
Surgical Treatment ◽  
Primary Aldosteronism ◽  
Cerebrovascular Accident ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Secondary Hypertension ◽  
Acute Cerebrovascular Accident ◽  
Initial Stage ◽  
Common Causes

Abstract Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, which in less than half of cases is manifested by hypokalemia. In cases where hypokalemia becomes significant, it can lead to muscle weakness or even paralysis. Such patients are often unsuccessfully treated by neurologists or rheumatologists. In our clinical case a 61 year old patient had rapidly developing symptoms, which were interpreted by ambulance paramedics as an acute cerebrovascular accident. Since the patient was admitted to a multidisciplinary hospital, he was examined by doctors of different specialties, the diagnostic direction was set correctly and rhabdomyolysis was already detected at the initial stage. We excluded various causes of myopathy, which ultimately led us to the most likely cause of this condition - hypokalemia, and explained muscle symptoms. As a result, it helped us to identify the correct diagnosis - aldosteronism. The patient quickly recovered due to the prescribed therapy and felt good, and therefore refused surgical treatment (adrenalectomy), which, perhaps, would allow him to fully recover. Thus, a rare clinical case of differential diagnosis and successful drug treatment of PA with hypokalemia, which is manifested by rhabdomyolysis, is presented.

scholarly journals First case report of dermatitis associated with Leporacarus gibbus in cat

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Mirabela Oana Dumitrache ◽  
Adriana Györke ◽  
Gianluca D’Amico ◽  
Viorica Mircean
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Case ◽  
Clinical Signs ◽  
Zoonotic Potential ◽  
Case Presentation ◽  
First Case ◽  
Skin Conditions ◽  
Pruritic Skin ◽  
Microscopy Examination

Abstract Background Leporacarus gibbus is a highly specific acarian parasitizing in rabbits, with a proven zoonotic potential. While the majority of cases of L. gibbus infestation are asymptomatic, several cases of pruritic cutaneous condition in both laboratory and pet rabbits were reported. Up to date, L. gibbus has not been linked with clinical signs in any other species than rabbits and humans. Case presentation This case report described the clinical case of a 14-month-old cat with a dermatitis linked to L. gibbus. Mites specimens were collected by brushing, followed by light microscopy examination and species identification. To the best of our knowledge, this is the first report of L. gibbus-related dermatitis in cat. Conclusions L. gibbus infestation should be considered as a possible differential diagnosis of pruritic skin conditions in cat.

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