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Differential Diagnosis For Family history/Skeletal malformations


List of current finding(s):

Metabolic, Storage Disorders
Renal tubular disorders/metabolic
Hurler's mucopolysaccharidosis syndrome
Renal tubular acidosis type IV
Sialidosis/Cherry Red Spot Myoclonus
Beta-glucuronidase deficiency syndrome (MPS VII)
Fucosidosis (Anderson-Fabry)
Hunter's mucopolysaccharidosis syndrome
Hurler-Scheie compound syndrome/mucopol
Maroteaux-Lamy Mucopolysaccharidosis VI Syndrome
Morquio's mucopolysaccharidosis synd.
Pseudo-Hurler polydystrophy (mucol'd 3)
Sanfilippo's mucopolysaccharidosis synd
Scheie syndrome
Congenital, Developmental Disorders
Renal tubular acidosis
Renal tubular acidosis, proximal/type 2
Acrocephalopolysyndactyly (Pfeiffer I)
Anetoderma/osteogenesis imperfecta (Blegvad-Haxthausen)
Dyschondrosteosis, Leri-Weill type
Dysostosis multiplex
Dysplasia, craniometaphyseal
Holt-Oram syndrome
Larsen Dysmorphic Syndrome
Hereditary, Familial, Genetic Disorders
Osteopetrosis (Albers-Schonberg)
Absent radius/thrombocytopenia syndrome
Achondrogenesis I/Parenti-Fraccaro
Marfan's syndrome
Osteogenesis imperfecta
Jarcho-Levin Spondylocostal dysplasia Syndrome
Pallister W Syndrome
Achondrogenesis II/Langer-Saldino
Acrocephalosyndactyly type III syndrome
Bird-headed dwarf of Seckel
Cockayne syndrome
Dolichospondylic dysplasia
Fanconi's pancytopenia-dysmelia synd
Hypothalamic hypogonadism, Kallman's
Metaphyseal chondrodysplasia
Ollier's enchondromatosis
Schwartz-Jampel syndrome
Scott's Craniodigital syndrome
Shwachman (Shwachman-Diamond) syndrome
ABNORM MUSCULOSKELETAL, Abnormalities Musculoskeletal, Abnormality Musculoskeletal, Anomaly congenital musculoskeletal, anomaly musculoskeletal, Cong abnorm musc/skeletal syst, Cong malf/deform musculosk sys, Cong malf+deform musculoskl, Congen.musculoskel.anomal.NOS, Congen.musculoskeletal, Congenital abnormality of musculoskeletal system, Congenital anomalies, CONGENITAL ANOMALIES OF THE MUSCULOSKELETAL SYSTEM, Congenital anomaly musculo, Congenital anomaly musculoskeletal, Congenital anomaly of musculoskeletal system, Congenital anomaly of musculoskeletal system (disorder), congenital anomaly of the musculoskeletal system, Congenital deformity of musculoskeletal system, Congenital malformation / deformation musculoskeletal system, Congenital malformation and deformation of the musculoskeletal system, Congenital malformation and deformation of the musculoskeletal system (disorder), Congenital malformation of musculoskeletal system unspecified, Congenital malformations and deformations of the musculoskeletal system, Congenital malformations and deformations of the musculoskeletal system (disorder), Congenital malformations+deformations musculoskeletal sys, Congenital musculoskeletal abnorm, Congenital musculoskeletal abnormality, Congenital musculoskeletal anomalies, Congenital musculoskeletal anomalies (disorder), Congenital musculoskeletal anomaly, Congenital musculoskeletal deformities, Congenital musculoskeletal deformity, Congenital musculoskeletal deformity (disorder), deformity musculoskeletal system congenital, Family history, MUSCULOSKELETAL ABNORM, Musculoskeletal Abnormalities, Musculoskeletal Abnormality, Musculoskeletal anomaly, Musculo-skeletal anomaly, Musculoskeletal congen anomal, Musculoskeletal congenital, Musculoskeletal congenital anomaly, Musculoskeletal congenital anomoly, musculoskeletal deformity congenital, SECTION 4-1 CONGENITAL ANOMALIES OF THE MUSCULOSKELETAL SYSTEM, Skeletal anomaly-congen
External Links Related to Family history/Skeletal malformations
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)