Although neonatal suppurative parotitis is now uncommon in the newborn, it cannot be considered a "vanishing disease".

A patient with microbrachycephaly, high forehead, long philtrum, thin upper lip, downturned corners of the mouth, low set ears with overlapping helix, fifth-finger clinodactyly, small hands and feet, bilateral transverse palmar crease, low total finger ridge count, hypotonia, severe growth and psychomotor delay, mild hypoplasia of corpus callosum, and Arnold-Chiari type 1 malformation is reported. The karyotype showed 46, XY, del(1)(q23q31.2). Coagulation factor V (F5, 1q23) and coagulation factor XIII (F13B, 1q31-q32.1) levels were normal. As expected, antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency.

The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.

We present a family affected with distal arthrogryposis type IIB (DA IIB) in three generations. The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum.

We report on the occurrence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and Maumenee, 1984: Ophthalmol Pediatr Genet 4:59-66]. The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance.