scholarly journals Cleidocranial Dysostosis – An Enigma Developmental Bones Anomaly

2019 ◽  
pp. 1-8
Author(s):  
A. O. Adebola Yusuf ◽  
A. Adeniyi ◽  
T. A. Oyedele ◽  
C. O. Akisanya
Keyword(s):  
Rare Condition ◽  
Deciduous Teeth ◽  
Cranial Sutures ◽  
Cleidocranial Dysplasia ◽  
Cleidocranial Dysostosis ◽  
Delayed Eruption ◽  
Classical Association ◽  
Delayed Ossification ◽  
Strong Suspicion

Cleidocranial Dysostosis, known also as Cleidocranial dysplasia, Mutational Dysostosis, Scheuthauer Marie-Sainton syndrome, is a rare condition which is characterized by delayed ossification of midline structures. Case study of the phenomenon has been reported here. Reports revealed that the classical association of a spectacular dental anarchy, with non-closure of cranial sutures, retention of deciduous teeth and delayed eruption of permanent denture and typical facies of underdevelopment raise strong suspicion of autosomal syndrome. The reviewed patient as a classic demonstration of cleidocranial dysostosis, succinctly represented the condition.

scholarly journals Umbilical true knot: a case study

2018 ◽  
Vol 7 (7) ◽  
pp. 2956
Author(s):  
Hima Bindu Kommuri ◽  
Valsa Diana G.
Keyword(s):  
Risk Factors ◽  
Umbilical Cord ◽  
Rare Condition ◽  
Fetal Outcome ◽  
Prenatal Ultrasonography ◽  
Male Fetus ◽  
Fetal Demise ◽  
Intrauterine Fetal Demise ◽  
Fetal Movements

Umbilical cord true knot is a rare condition which affects about 1% of all pregnancies. The incidence is not only very low, but it is often undiagnosed antenatally when present despite the availability of prenatal ultrasonography as in this case, where the diagnosis of true knot of umbilical cord was missed even when an ultrasonogram was done 1 week prior to the presentation of patient with decreased fetal movements to opd. Majority of times it does not have any relation with fetal outcome but in certain occasions it is associated with intrauterine fetal demise as in present case presented here. Risk factors include long umbilical cord, polyhydramnios, small fetus, male fetus, etc.

scholarly journals Cleidocranial dysplasia presenting with retained deciduous teeth in a 15-year-old girl: a case report

2012 ◽  
Vol 6 (1) ◽  
Author(s):  
Nagarathna C ◽  
Bethur Siddaiah Shakuntala ◽  
Somy Mathew ◽  
Navin Hadadi Krishnamurthy ◽  
Ratna Yumkham
Keyword(s):  
Case Report ◽  
Deciduous Teeth ◽  
Cleidocranial Dysplasia

scholarly journals Isolated fallopian tube torsion associated with hydrosalpinx in a 12-year-old girl: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Javier Martín-Vallejo ◽  
Enrique E. Garrigós-Llabata ◽  
Patricia Molina-Bellido ◽  
Pedro A. Clemente-Pérez
Keyword(s):  
Abdominal Pain ◽  
Fallopian Tube ◽  
Acute Abdominal Pain ◽  
Pediatric Population ◽  
Rare Condition ◽  
Case Presentation ◽  
Reactive Protein ◽  
Clinical Case Study ◽  
Caucasian Girl

Abstract Background Isolated fallopian tube torsion associated with hydrosalpinx is a rare condition in the pediatric population. We present this unusual clinical case study in a sexually inactive girl. Case presentation a12-year-old Caucasian girl presented symptoms of acute abdominal pain. Pelvic ultrasound revealed a normal looking uterus and ovaries and next to left ovary a imaging compatible with hydrosalpinx. She was discharged 48 hours later after clinical monitoring with oral analgesia and normal blood workup. At 3 weeks, she was readmitted for acute abdominal pain. Leukocytosis with left shift and raised C-reactive protein were observed. Her clinical condition worsened, and complication of the preexisting hydrosalpinx was suspected. Exploratory laparoscopy confirmed torsion of the fallopian tube. Left salpingectomy was performed. Histopathologic study confirmed a fallopian tube with hemorrhagic infarct. Conclusion Torsion of the fallopian tube must be considered in the event of acute abdominal pain. Early diagnosis and trying conservative management with a view to preserving fertility in this group of patients are essential.

Haddad Syndrome: A Case Study

2005 ◽  
Vol 24 (4) ◽  
pp. 41-44 ◽  
Author(s):  
Lisa Shuman ◽  
Diane Youmans
Keyword(s):  
Rare Condition ◽  
Alveolar Ventilation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Newborn Period ◽  
Neural Crest Development ◽  
Common Etiology ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Haddad Syndrome

Hirschsprung’s disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies.HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.

Hereditary symphalangism with associated tarsal synostosis and hypophalangism

1993 ◽  
Vol 83 (1) ◽  
pp. 1-9 ◽  
Author(s):  
JE Castle ◽  
S Bass ◽  
IO Kanat
Keyword(s):  
Family Members ◽  
Rare Condition ◽  
Mendelian Inheritance ◽  
Interphalangeal Joint ◽  
Genetic Condition ◽  
Joint Fusion ◽  
Hands And Feet

Symphalangism is a rare genetic condition that may represent the earliest documentation of mendelian inheritance in man. The disorder results in interphalangeal joint fusion in the hands and feet. The authors review this rare condition and present a case study consisting of four generations with 15 affected family members. The association of multiple tarsal synostosis and the previously unreported associated occurrence of pedal hypophalangism in this pedigree is presented.

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study

2020 ◽  
Vol 39 (2) ◽  
pp. 83-91
Author(s):  
Mary Whalen
Keyword(s):  
Chromosomal Abnormalities ◽  
Rare Condition ◽  
Trisomy 13 ◽  
Aplasia Cutis Congenita ◽  
Live Births ◽  
Patau Syndrome ◽  
Males And Females ◽  
Aplasia Cutis

Aplasia cutis congenita (ACC) is a rare condition that presents at birth as an absence of skin that does not usually involve underlying structures. Occurring in 3/10,000 live births, ACC is evenly distributed between males and females; the risk of ACC increases to 7 percent in consanguineous marriages. Up to 86 percent of lesions are found on the scalp in the midline vertex position. Lesions can also be found on the trunk and limbs, as with Adams-Oliver syndrome or accompanying epidermolysis bullosa. ACC is associated with chromosomal abnormalities and 35–50 percent of the time with trisomy 13 (Patau syndrome). This case study presents an infant with multiple ACC lesions of the scalp. The pathophysiology, treatment, potential long-term complications, and nursing considerations are discussed.

Under Pressure for a Diagnosis: A Case Study Review of Pheochromocytoma Genetics

2008 ◽  
Vol 1 (2) ◽  
pp. 95-100
Author(s):  
Tracy D. Andrews
Keyword(s):  
Genetic Testing ◽  
Nurse Practitioners ◽  
Rare Condition ◽  
Diagnostic Process ◽  
Refractory Hypertension ◽  
Familial History ◽  
History Of ◽  
Study Review

Pheochromocytoma is a rare condition that has serious consequences. Although a diagnosis of exclusion, this condition must be considered in patients under the age of 40 with refractory hypertension and a familial history of pheochromocytoma. This article discusses the diagnostic process, including genetic testing, and explores the role of nurse practitioners in evaluating patients who present with symptoms of pheochromocytoma.

scholarly journals Dental Prosthetic Treatments in Cleidocranial Dysplasia: Case Report and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Yosra Mabrouk ◽  
Sinda Ammar ◽  
Amel Labidi ◽  
Lamia Mansour ◽  
Sonia Ghoul
Keyword(s):  
Dental Treatment ◽  
Cone Beam ◽  
Permanent Teeth ◽  
Deciduous Teeth ◽  
Cleidocranial Dysplasia ◽  
Aged Patients ◽  
Long Term Follow Up ◽  
Prosthetic Implant

Cleidocranial dysplasia (CCD) is a rare inherited skeletal syndrome. There is no consensus regarding the dental treatment strategy. Objectives. To report a rare case of cleidocranial dysplasia and to summarize the current clinical and dental features and prosthetic treatment of similar CCD patients reported in the literature. Results. A 17-year-old girl was diagnosed with CCD. She had a short stature with the ability to bring the shoulders under the chest. All remaining teeth were deciduous except the four first molars were permanent. The maxilla was hypoplastic with a relative prognathism of the mandible. The cone-beam computed tomography examination showed a distorted and incomplete root formation of the permanent teeth. She was treated with both, complete and partial, removable overdentures. PubMed was used for the literature research using the following keys words “Cleidocranial Dysplasia”[Mesh], “Prosthodontics”[Mesh], “Dental Care”[Mesh], “cleidocranial dysostosis,” and “dental treatment.” The retention of deciduous teeth was described in the majority of cases. All the patients had supernumerary teeth. The most used treatments were dental prosthetics and orthodontics. The fixed prosthetic implant was the most used type of prosthetic treatment. Among the 15 cases who specified the type of prosthetic treatment, seven patients received removable dentures. Prosthetics was indicated especially for aged patients. Conclusion. Removable prostheses are a good solution that rapidly restores esthetics and functions. The use of implants for these patients needs to be validated by a long-term follow-up.

scholarly journals PYKNODYSOSTOSIS

2011 ◽  
Vol 18 (02) ◽  
pp. 331-335
Author(s):  
A. ODHIAMBO ◽  
JEREMIAH MOSHY ◽  
W OTIENO ◽  
EN Simon ◽  
ML Chindia
Keyword(s):  
Autosomal Recessive ◽  
Accurate Diagnosis ◽  
Cranial Sutures ◽  
Long Bones ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Multiple Fractures ◽  
Radiological Features ◽  
Cleidocranial Dysostosis ◽  
Skeletal Disorder

Pyknodysostosis (PKD), also called Maroteaux-Lamy disease or Toulouse-Lautrec syndrome is a rare osteosclerosing skeletal disorder that has an autosomal recessive trait. It is characterized by short stature, brachycephaly, short stubby fingers, open cranial sutures and fontanelles, diffuse osteosclerosis with attendant multiple fractures of long bones and osteomyelitis of the jaw; but with rare visceral manifestations. In this article we present three cases of PKD with diverse classical clinico-radiological features. Worldwide PKD have been reported in 9-months to 55 years but remarkably, we have presented amongst the youngest diagnosed cases, at 8months with visceral manifestations. Understanding early and delayed clinic-radiological manifestations of PKD is very important as accurate diagnosis of PKD avoid misdiagnosing it as hydrocephalous, cleidocranial dysostosis and osteopetrosis as the conditions may resemble each other clinically and radiologically.

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