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Paediatrics x Clinical Genetics x clear all

The Abdomen and Perineum

William Reardon.

in The Bedside Dysmorphologist

October 2015; p ublished online September 2015 .

Chapter. Subjects: Clinical Genetics; Neonatology. 4676 words.

This is a clinical guide to common—and often quite subtle—congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise,...

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The Abdomen and Perineum

William Reardon.

in The Bedside Dysmorphologist

October 2007; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology. 4168 words.

This chapter covers clinical signs relating to the abdomen and perineum (minor anomalies of the umbilicus, Umbilical Hernia/ Omphalocele, Inguinal Hernia, Small Penis/Micropenis, Ambiguous...

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Amniotic Bands

Lewis B. Holmes.

in Common Malformations

October 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology. 4519 words.

This chapter covers Amniotic Bands, including definition, appearance, associated malformations, developmental defect, prevalence, genetic factors, environmental factors, treatment and...

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Anthropologic Measurements

Lewis B. Holmes.

in Common Malformations

October 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology. 14105 words.

The published measurements in infants, children, and adults have been published by Hall, Allanson, Gripp, and Slavotinek in Handbook of Physical Measurements. This chapter adds to these...

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The Approach to the Malformed Newborn

Lewis B. Holmes.

in Common Malformations

October 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology. 5716 words.

Malformed infants are born usually as a complete surprise to healthy parents. Sometimes the moment of surprise is during prenatal sonography; at other times, it is in the delivery room....

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The Bedside Dysmorphologist

William Reardon.

October 2015; p ublished online September 2015 .

Book. Subjects: Clinical Genetics; Neonatology. 408 pages.

The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides...

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The Bedside Dysmorphologist

William Reardon.

October 2007; p ublished online October 2012 .

Book. Subjects: Clinical Genetics; Neonatology. 320 pages.

Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who...

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Biochemistry of Duchenne muscular dystrophy

Alan E H Emery, Francesco Muntoni and Rosaline Quinlivan.

in Duchenne Muscular Dystrophy

March 2015; p ublished online May 2015 .

Chapter. Subjects: Clinical Genetics; Paediatrics. 6542 words.

The literature on the biochemistry of muscular dystrophy is overwhelming. It could be argued that, now that the primary defect has been identified in DMD and shown to be a deficiency of...

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Birth Marks

Daniela Kroshinsky, Joseph C. Alper and Lewis B. Holmesm.

in Common Malformations

October 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology; Dermatology. 13007 words.

This chapter covers Birth Marks: NEVUS SIMPLEX (SALMON PATCH), INFANTILE HEMANGIOMA, PORTWINE STAIN, CONGENITAL NEVI, GIANT HAIRY NEVUS, CAFÉ-AU-LAIT SPOTS, MONGOLIAN SPOT, SEBACEOUS NEVUS...

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Bowel Atresias

Lewis B. Holmes.

in Common Malformations

October 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology. 13694 words.

This chapter covers DUODENAL ATRESIA, ESOPHAGEAL ATRESIA, IMPERFORATE ANUS, and JEJUNOILEAL ATRESIA, including definitions, appearance, associated malformations, developmental defect,...

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