Introductory comments
Development
A hitchhiker's guide to the older literature of descriptive teratology
Status of the human malformation map
Terminological inexactitude
Complementary and alternative medicine (CAM) in genetics
Descent, lineage, and pedigree of the Trojans in Homer's Iliad
Emerging infections and pregnancy
Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus
Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA
Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification
Craniosynostosis associated with distal 5q-trisomy
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication
Newly delineated syndrome of c ongenital l ipomatous o vergrowth, v ascular malformations, and e pidermal nevi (CLOVE syndrome) in seven patients
Expanding the phenotype of oculoectodermal syndrome
Brain anomalies in encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts
Neuroimaging findings in macrocephaly–capillary malformation
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM)
Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
Obesity
Evidence that macrocephaly and obesity may be dependent traits
Multifocal rapidly involuting congenital hemangioma
Phakomatosis pigmentovascularis
Genetics of sexual development
Subtypes of frontonasal dysplasia are useful in determining clinical prognosis
Embryogenesis of holoprosencephaly
Clinical epidemiologic study of holoprosencephaly in South America
Cyclopia, aprosencephaly, and acardiac twinning
A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000
Visualization of human prenatal development by magnetic resonance imaging (MRI)
Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies
A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities
A patient with TCIRG1 -related infantile osteopetrosis presenting with congenital anomalies
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3
Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome
Al-Awadi/Raas-Rothschild syndrome
Five cases of caudal regression with an aberrant abdominal umbilical artery
Longitudinal assessment of cognitive characteristics in Costello syndrome
Fraser syndrome
Muenke syndrome (FGFR3-related craniosynostosis)
Regional analysis on the occurrence of oral clefts in South America
Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases
The face of Joubert syndrome
The morphogenesis of wormian bones
Cerebro-oculo-nasal syndrome
X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate
Pai syndrome
Raine syndrome
Acrofacial dysostosis syndrome type Rodriguez
Two siblings with an unusual nasal malformation
Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
Oro-facial-digital syndrome IX with severe microcephaly
Oral–facial–digital syndromes
Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia