Costello syndrome community mourns New Zealand pediatrician
Late onset Pompe disease revealed by newborn screening
In this issue
Nosology and classification of genetic skeletal disorders: 2010 revision
Implementing the elements of morphology in the American Journal of Medical Genetics
Invited comment on terminology
Mental retardation: Is naming the real issue?
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31
Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome
Vestibular dysfunction in DFNB1 deafness
Homozygosity mapping identifies the Crumbs homologue 1 ( Crb1 ) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos
Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005
Risk factors for aortic valve disease in bicuspid aortic valve: A family-based study
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)
Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism
Nutritional phases in Prader-Willi syndrome
Multiple increased osteoclast functions in individuals with neurofibromatosis type 1
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?
Wisconsin stillbirth services program: A multifocal approach to stillbirth analysis
A comprehensive description of the severity groups in Cockayne syndrome
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21–22.1 locus
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism
Left ventricular noncompaction in Sotos syndrome
WNT10A and isolated hypodontia
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX
PTPN11 gene mutation associated with abnormal gonadal determination
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization
der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysis
Wilms tumor in a patient with 22q11.2 microdeletion
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews
The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature
Expanding the skeletal phenotype of Loeys-Dietz syndrome
Short-term follow-up of a Brazilian patient with Cantú syndrome
Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss
Book review
6q27 subtelomeric deletions: Is there a specific phenotype?
Corrigendum to “Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome” Am J Med Genet 152A: 1661–1669