Neonatal Lateral Epiglottic Defects

Introduction: Multiple congenital abnormalities of the epiglottis have been reported and iatrogenic injuries to the larynx and subglottis are well known. We present a new pattern of defect not previously reported in the literature. Methods: Epiglottic abnormalities at two institutions are reviewed. Cases of defects involving the lateral aspect of the epiglottis and aryepiglottic fold are identified. A literature review of known epiglottic defects is performed. Results: Two children possessing lateral notch injuries at the aryepiglottic attachment to the epiglottis are described. Both children have a history of multiple laryngeal instrumentation attempts and prolonged intubation. Both have swallowing difficulties and are gastrostomy dependent. Congenital epiglottic defects include aplasia and midline bifidity, however, no lateral congenital epiglottic defects have been reported. Conclusion: Epiglottic defects, while rare, should be part of the differential for children with aspiration and feeding difficulties. A new pattern of defect is described and iatrogenic etiology proposed.

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One More Tissue Is Required to Understand the Cytogenetics of Intellectual Disability in Patients With Multiple Congenital Abnormalities

10.26226/morressier.5a6ef3eed462b80290b57ba4 ◽

2018 ◽

Author(s):

Anna Kashevarova

Keyword(s):

Intellectual Disability ◽

Congenital Abnormalities ◽

Multiple Congenital Abnormalities

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Bilateral Congenital Humeroradial Synostostis Presenting with Bilateral Proximal Radius Fractures: A Case Report

Case Reports in Orthopedic Research ◽

10.1159/000512183 ◽

2021 ◽

pp. 29-32

Author(s):

Elsiddig E. Mahmoud

Keyword(s):

Case Report ◽

Elbow Joint ◽

Parental Education ◽

Functional Disability ◽

Congenital Abnormalities ◽

Rare Condition ◽

Radius Fractures ◽

Proximal Radius ◽

History Of ◽

Uncommon Condition

Congenital bilateral humeroradial synostosis (HRS) is a rare condition. It is generally divided into 2 categories. In the first group, which is mainly sporadic, additional upper limb hypoplasia typically coexists. In the second group, which is classically familial, HRS is commonly an isolated upper extremity anomaly. HRS can lead to variable degrees of functional disability. The clinical case reported here illustrates a possibly avoidable presentation of this uncommon condition. In this case report, we present a 6-week-old male who presented with bilateral radius fractures. Radiography revealed congenital HRS at both elbows. No other associated congenital abnormalities were detected, and there was no family history of similar conditions in any first-degree relatives. In cases of congenital HRS, movement at the elbow joint is not possible. Parents who are unaware of this information might try to straighten their infant’s elbows, which in turn may result in fractures of the proximal radius. Hence, early diagnosis and proper parental education could prevent fractures as a sequela of HRS.

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Balloon tracheoplasty for tracheal stenosis after prolonged intubation: a simple procedure, but is it effective?

The Cardiothoracic Surgeon ◽

10.1186/s43057-021-00052-5 ◽

2021 ◽

Vol 29 (1) ◽

Author(s):

Abdallah Nosair ◽

Mahmoud Singer ◽

Mohamed Elkahely ◽

Rezk Abu-Gamila ◽

Waleed Adel

Keyword(s):

Tracheal Stenosis ◽

Balloon Dilatation ◽

Simple Procedure ◽

Symptomatic Relief ◽

Additional Treatment ◽

Prolonged Intubation ◽

Midterm Outcome ◽

History Of ◽

Balloon Tracheoplasty

Abstract Background Tracheal stenosis following prolonged intubation is a relatively rare but serious problem. This condition is usually managed by surgical or endoscopic interventions. Bronchoscopic balloon dilatation for tracheal stenosis is considered a valuable tool used for the management of tracheal stenosis. In this article, we try to evaluate the role of balloon tracheoplasty in the management of tracheal stenosis and to assess the number of dilatation sessions usually needed as well as the short to midterm outcome. Results This study involved 40 patients with tracheal stenosis diagnosed by computed tomography (neck and chest) and bronchoscopy at the Security Force Hospital in Riyadh, KSA, between January 2013 and August 2018. Patients’ data were retrospectively reviewed and analyzed. Patients’ age ranged between 18 and 60 years. Thirty patients were males (75%); those patients underwent balloon tracheoplasty via dilatation of areas of narrowing using catheter balloon insufflation guided by fiber-optic bronchoscope. Ninety-five percent of the patients had initial success with acceptable dilatation of the stenotic area and improvement of the symptoms. There were no technical or major problems which resulted from the procedure, and no patient complained of severe pain or severe discomfort after the procedure. From the total of 81 BBD sessions, no in-hospital mortality is related to the procedure itself, and ICU stay ranged between 1 and 5 days post-procedure. Among those 40 patients, 16 patients (40%) needed one session, 10 patients (25%) needed two sessions, 8 patients (20%) needed three sessions, and 6 patients (15%) needed more than three sessions of balloon dilatation. Conclusion Balloon tracheoplasty is a simple, safe method and could be a promising and effective approach that offers immediate symptomatic relief for tracheal stenosis in cases with a history of prolonged intubation. It is worth mentioning that BBD is considered as a temporary measure, and most of the cases will need definitive or additional treatment either resection or stent placement.

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Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study

Congenital Anomalies ◽

10.1111/j.1741-4520.2008.00192.x ◽

2008 ◽

Vol 48 (3) ◽

pp. 126-136 ◽

Cited By ~ 8

Author(s):

Erzsébet H. Puhó ◽

Andrew E. Czeizel ◽

Nándor Ács ◽

Ferenc Bánhidy

Keyword(s):

Birth Outcomes ◽

Pregnancy Complications ◽

Case Control Study ◽

Congenital Abnormalities ◽

Population Based ◽

Case Control ◽

Control Study ◽

Multiple Congenital Abnormalities

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A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings

PEDIATRICS ◽

10.1542/peds.47.3.610 ◽

1971 ◽

Vol 47 (3) ◽

pp. 610-612

Author(s):

Richard L. Neu ◽

Tadashi Kajii ◽

Lytt I. Gardner ◽

Stephen F. Nagyfy ◽

Saddie King

Keyword(s):

Corpus Callosum ◽

Congenital Anomalies ◽

Congenital Abnormalities ◽

Clinical Findings ◽

Cytogenetic Abnormality ◽

Multiple Congenital Anomalies ◽

Multiple Congenital Abnormalities

The clinical findings are described in three siblings with a syndrome of microcephaly and multiple congenital abnormalities. All three infants had congenital anomalies of the limbs, described as flexion deformities. Infant 2 showed atrophic gyri and absence of the corpus callosum, with atrophy of cerebrum, cerebellum, and pons. Infant 2 exhibited unusual canine facies. Chromosomal studies were normal on infant 3 (leucocyte and skin cultures). Leucocyte cultures from the mother and father revealed no cytogenetic abnormality.

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A derivative chromosome 13pat in a subject with multiple congenital abnormalities

Cytogenetic and Genome Research ◽

10.1159/000131377 ◽

1979 ◽

Vol 24 (3) ◽

pp. 197-197 ◽

Cited By ~ 1

Author(s):

G. Kohn ◽

M.M. Cohen ◽

M.M. Aronson ◽

A.E. Greene ◽

L.L. Coriell

Keyword(s):

Congenital Abnormalities ◽

Derivative Chromosome ◽

Multiple Congenital Abnormalities

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Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3′ MECOM

Haematologica ◽

10.3324/haematol.2017.185033 ◽

2018 ◽

Vol 103 (4) ◽

pp. e173-e176 ◽

Cited By ~ 2

Author(s):

Lars T. van der Veken ◽

Merel C. Maiburg ◽

Floris Groenendaal ◽

Mariëlle E. van Gijn ◽

Andries C. Bloem ◽

...

Keyword(s):

Bone Marrow ◽

Congenital Abnormalities ◽

Bone Marrow Failure ◽

Bone Marrow Failure Syndrome ◽

Limb Defects ◽

Multiple Congenital Abnormalities

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Extrapelvic Compression of the Femoral Nerve: An Uncommon Cause of Hip Pain

Hip International ◽

10.1177/112070009600600307 ◽

1996 ◽

Vol 6 (3) ◽

pp. 129-133

Author(s):

H. Stalder ◽

J. Romero ◽

V. Dietz

Keyword(s):

Hip Joint ◽

Femoral Nerve ◽

Clinical Signs ◽

Quadriceps Muscle ◽

Hip Pain ◽

Lumbar Plexus ◽

Sensory Loss ◽

Short History ◽

Lateral Aspect ◽

History Of

The case of a patient with short history of unilateral hip pain due to compression of the lumbar plexus by a cyst arising from the hip joint is reported. Radiologically there were only mild signs of osteoarthritis of the affected hip but severe degenerative changes were found in the lumbar spine. There was atrophy of the quadriceps muscle of the affected limb with subsequent giving-way during gait and sensory loss on the lateral aspect of the thigh. The neurological and electromyographical examination suggested compression of the lumbar plexus. By sonography, computerized tomography and contrast radiographs, a finger shaped cyst was identified going from the ventromedial aspect of the hip joint between the iliopsoas, the pectineus, and the iliacus muscles respectively. After excision of the cyst, hip pain ceased and the signs of neural compression disappeared almost completely within 12 weeks. Histologically the specimen showed synovial tissue with cartilaginous debris. In cases of hip pain without sufficient radiological and clinical signs of osteoarthritis, femoral nerve compression should be excluded by neurological examination. To our knowledge, this is the first report about compression of the femoral nerve by an isolated extrapelvic cyst arising from the hip joint.

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