SummaryWe report on a female infant with an interstitial deletion involving 2q24.3. She had multiple congenital anomalies similar to those in patients with del(2)(q31q33) except for an occipital encephalocele. As a result of comparison of clinical findings among interstitial 2q deletions, a distinct 2q medial monosomy syndrome may be delineable in association with a deletion of 2q31.

A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high‐resolution analysis revealed the karyotype to be: 46,XX,‐3,+der(3)t(3;9)(q29;q13) de novo. A phenotype‐karyo‐type correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.

SummaryA newborn girl is reported with seemingly typical Apert syndrome with preaxial polysyndactyly of the feet. As a result of reevaluation of familial cases of acrocephalosyndactyly with polysyndactyly, acrocephalosyndactyly is suggested to be divided into two major groups. Apert-Pfeiffer type (acrocephalosyndactyly type I) is characterized by Crouzon-like facies, hallux varus and severe syndactyly. Saethre-Chotzen/ Robinow-Sorauf type (acrocephalosyndactyly type II) is characterized by Saethre-Chotzen facies, hallux valgus and mild syndactyly. Each type should have atypical forms with polysyndactyly due to pleiotropic effect of a dominant gene.

We present a 6-month-old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da-Silva in 1988 suggests initial delineation of the da-Silva syndrome.