• A new overgrowth syndrome is due to mutations in RNF125
• Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
• Anorectal anomalies and Down syndrome
• Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs
• Chromosome 4p16 and osteochondroplasias
• De novo interstitial deletion q16.2q21 on chromosome 6
• Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly
• DK-phocomelia syndrome in a child with a long follow-up
• Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome
• Ectrodactyly in trisomy 13 syndrome
• Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
• Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother
• Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum
• Pericentric inversions of chromosome 4: report of a new family and review of the literature
• Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies
• Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)
• Pseudotrisomy 13 syndrome
• Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia
• Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence
• Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?
• Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?
• Short rib-polydactyly syndrome and pericentric inversion of chromosome 4
• Value of clinical analysis in epidemiological research: the Spanish registry experience