scholarly journals Depressed Nasal Bridge in Pediatric Orthopaedic Practice: A Review

2017 ◽  
Vol 1 (2) ◽  
Author(s):  
Sferopoulos NK
Keyword(s):  
Nasal Bridge ◽  
Orthopaedic Practice ◽  
Depressed Nasal Bridge ◽  
Pediatric Orthopaedic

An Unusual Ocular Finding Associated With Chromosome lq Deletion Syndrome

PEDIATRICS ◽  
1986 ◽  
Vol 77 (5) ◽  
pp. 786-786
Author(s):  
LINDA L. WRIGHT ◽  
MARCIA F. SCHWARTZ ◽  
STUART SCHWARTZ ◽  
JAMES KARESH
Keyword(s):  
Family History ◽  
Congenital Anomalies ◽  
Deletion Syndrome ◽  
Black Girl ◽  
Nasal Bridge ◽  
Drug Ingestion ◽  
Depressed Nasal Bridge ◽  
Fetal Wastage ◽  
History Of ◽  
Ocular Finding

To the Editor.— We report an unusual ocular finding associated with the chromosome lq deletion syndrome in a full-term black girl for whom there was no family history of congenital anomalies, fetal wastage, consanguinity, or drug ingestion. The infant was overtly microcephalic (third percentile) with a sloping forehead, metopic sutures open to the brow, and a large posterior fontanel. She had a low anterior hair line, depressed nasal bridge, bulbous nose, thin down-turned lips, prominent philtrum, malformed ears, and a webbed neck.

Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 756-761
Author(s):  
Humberto Moreno-Fuenmayor ◽  
Elaine H. Zackai ◽  
William J. Mellman ◽  
Margaret Aronson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Upper Lip ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Hands And Feet

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the trisomy 1Oq 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthamia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 1Oq, are believed to be expressions of a partial monosomy of 17p.

Introduction to Evidence-based Recommendations for Pediatric Orthopaedic Practice

2018 ◽  
Vol 38 (1) ◽  
pp. e25-e26
Author(s):  
Kishore Mulpuri ◽  
Emily K. Schaeffer ◽  
George H. Thompson ◽  
Robert N. Hensinger
Keyword(s):  
Evidence Based ◽  
Orthopaedic Practice ◽  
Pediatric Orthopaedic

Pediatric Orthopaedic Practice Management

2008 ◽  
Vol 28 (8) ◽  
pp. 795-798 ◽  
Author(s):  
W. Timothy Ward ◽  
Craig P. Eberson ◽  
Stephanie A. Otis ◽  
C. Douglas Wallace ◽  
Mark Wellisch ◽  
...  
Keyword(s):  
Practice Management ◽  
Orthopaedic Practice ◽  
Pediatric Orthopaedic

Tiered Guidelines in a Pediatric Orthopaedic Practice Reduce Opioids Prescribed at Discharge

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Courtney E. Baker ◽  
A. Noelle Larson ◽  
Daniel S. Ubl ◽  
William J. Shaughnessy ◽  
John D. Rutledge ◽  
...  
Keyword(s):  
Orthopaedic Practice ◽  
Pediatric Orthopaedic

Evidence-based Recommendations for Pediatric Orthopaedic Practice

2018 ◽  
Vol 38 (4) ◽  
pp. e225-e229 ◽  
Author(s):  
Kishore Mulpuri ◽  
Emily K. Schaeffer ◽  
H. Kerr Graham ◽  
Mininder S. Kocher ◽  
James Sanders ◽  
...  
Keyword(s):  
Evidence Based ◽  
Orthopaedic Practice ◽  
Pediatric Orthopaedic

Pediatric Orthopaedic Practice

2005 ◽  
Vol 2 (2) ◽  
pp. 133-146
Author(s):  
Ramani Narasimhan
Keyword(s):  
Orthopaedic Practice ◽  
Pediatric Orthopaedic

scholarly journals GM1 gangliosidosis: Case report

2010 ◽  
Vol 63 (5-6) ◽  
pp. 427-430
Author(s):  
Slobodan Obradovic ◽  
Olivera Laban ◽  
Zoran Igrutinovic ◽  
Biljana Vuletic ◽  
Ana Vujic ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Manifestations ◽  
Lysosomal Storage Disorders ◽  
Facial Features ◽  
Lysosomal Storage ◽  
Nasal Bridge ◽  
Gm1 Gangliosidosis ◽  
Decerebrate Rigidity ◽  
Depressed Nasal Bridge ◽  
Storage Disorders

Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.

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