Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs

AGW Hunter - Cmaj, 2002 - Can Med Assoc
DYSMORPHOLOGY IS THE BRANCH OF CLINICAL GENETICS in which clinicians and
researchers study and attempt to interpret the patterns of human growth and structural …

Elements of morphology: general terms for congenital anomalies

RC Hennekam, LG Biesecker… - American Journal of …, 2013 - Wiley Online Library
An international group of clinicians working in the field of dysmorphology has established a
process for the standardization of terms used to describe human morphology. The goals are …

Diagnosis in dysmorphology: clues from the skin

SF Smithson, RM Winter - British Journal of Dermatology, 2004 - academic.oup.com
Dysmorphology is the study of abnormal patterns of human development. A recurrent and
recognizable combination of physical and behavioural abnormalities makes up a syndrome …

Dysmorphologic diagnosis for the pediatric practitioner

JM Aase - Pediatric Clinics of North America, 1992 - Elsevier
Attaining an accurate diagnosis in children with congenital abnormalities is an important and
sometimes vital part of their care. With a basic knowledge of the types and causes of birth …

[HTML][HTML] Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

R Shaheen, N Patel, H Shamseldin, F Alzahrani… - Genetics in …, 2016 - nature.com
Purpose: Dysmorphology syndromes are among the most common referrals to clinical
genetics specialists. Inability to match the dysmorphology pattern to a known syndrome can …

[BOOK][B] The bedside dysmorphologist

W Reardon - 2007 - books.google.com
A highly illustrated field guide to dysmorphology, a key area of clinical genetics and a vital
competency for all clinicians. Oxford Genetics is a comprehensive, cross-searchable …

A computerised data base for the diagnosis of rare dysmorphic syndromes.

RM Winter, M Baraitser, JM Douglas - Journal of medical genetics, 1984 - jmg.bmj.com
A system is described for the computerised storage and retrieval of information on rare
dysmorphic syndromes. The clinician can ask a microcomputer for a list of syndromes with …

Evaluation and diagnosis of the dysmorphic infant

KL Jones, MP Adam - Clinics in perinatology, 2015 - perinatology.theclinics.com
Congenital anomalies are present in at least 10% of all NICU admissions, many of whom
have an underlying genetic condition. 1 Neonatologists are often the first physicians to …

Normal values for morphological abnormalities in school children

JHM Merks, HM Özgen, TLM Cluitmans… - American Journal of …, 2006 - Wiley Online Library
Clinical morphology has proven to be a strong tool in the delineation of many syndromes
and a helpful instrument in molecular studies. Numerous studies have been performed …

Genomics of human dysmorphogenesis

GN Wilson - American journal of medical genetics, 1992 - Wiley Online Library
A survey of Mendelian Inheritance in Man emphasizes the large Mendelian contribution to
human dysmorphogenesis and contrasts single gene conditions with chromosomal …