Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: A new entity or Hall–Riggs syndrome?

We report on a 4‐year‐old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical abnormalities. This complex of features resembles the Hall–Riggs syndrome but could represent a novel syndrome. © 2009 Wiley‐Liss, Inc.

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 149A; no. 5; pp. 1001 - 1005
Main Authors:	Ficcadenti, Anna, Santoro, Lucia, Petroni, Valeria, Carini, Cecilia, Gabrielli, Orazio
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-05-2009 Wiley-Liss
Subjects:	Adult and adolescent clinical studies Biological and medical sciences Brain Neoplasms - diagnosis Brain Neoplasms - genetics Central Nervous System Venous Angioma - diagnosis Central Nervous System Venous Angioma - genetics cerebral angiomas Child, Preschool Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - genetics Diseases of the osteoarticular system facial dysmorphisms Facies femoral nucleus necrosis Femur - abnormalities Fingers - abnormalities Humans Intellectual deficiency Intellectual Disability - diagnosis Intellectual Disability - genetics Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences mental retardation Osteonecrosis - diagnosis Osteonecrosis - genetics Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry skeletal anomalies Syndrome Nucleus Femur Diseases of the osteoarticular system cerebral angiomas Cardiovascular disease Developmental disorder Dysmorphic facies Mental retardation Encephalon Necrosis Vascular disease skeletal anomalies Disease of the hand Anomaly Upper limb Face Brachydactyly femoral nucleus necrosis Stomatology Finger Syndrome Angioma Malformation Intellectual deficiency facial dysmorphisms Bone
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Summary:	We report on a 4‐year‐old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical abnormalities. This complex of features resembles the Hall–Riggs syndrome but could represent a novel syndrome. © 2009 Wiley‐Liss, Inc.
Bibliography:	How to cite this article: Ficcadenti A, Santoro L, Petroni V, Carini C, Gabrielli O. 2009. Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: A new entity or Hall–Riggs Syndrome? Am J Med Genet Part A 149A:1001–1005. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.32805