A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

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.

Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB.

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.

Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature.

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.

Neonatal suppurative parotitis: a study of five cases.

UNLABELLED: Suppurative parotitis is uncommon in newborns. During a 9-year study period, five cases of neonatal suppurative parotitis were detected in 3,624 hospital admissions. The relative risk of developing neonatal suppurative parotitis in admitted infants was 5.52 (0.62-49.35). Staphylococcus aureus was the causative organism most commonly detected in the hospital-acquired cases. Antimicrobial therapy was effective in all cases; surgery was not required. CONCLUSION: Although neonatal suppurative parotitis is now uncommon in the newborn, it cannot be considered a "vanishing disease".

Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications.

We describe a mother and her twin daughters affected with severe hypodontia of the permanent teeth, precocious calcification of the choroid plexus, and minor digital anomalies. The presence of inner telecanthus, broad and flattened nasal bridge, mild ocular proptosis, small nose with anteverted nostrils, and slight microretrognathia gives them an unusual appearance. All three affected persons are of normal intelligence.

Hypoglycemia in childhood: a clinical approach.

A child with hypoglycemia presents very frequently an urgent diagnostic and therapeutic challenge. The main causes of hypoglycemia and the clinical approach and laboratory investigations are reviewed underlining that the relationship between the hypoglycemic event and the last meal can aid in diagnosis, in particular for metabolic diseases. Only a correct and precise diagnosis can allow adequate and appropriate treatment and prevention of future hypoglycemic events.

Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family.

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.

Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome.

We describe a girl with midline defects and distal limb anomalies, who had a supernumerary der(22) syndrome. The presence of some anomalies identifying the midline defects, led us to review all patients reported up to now, with interesting results. We point out the particular finding of midline defects in CNS only, in patients studied by autopsy or neuroradiologic imaging.

Further delineation of 7p trisomy. Case report and review of literature.

The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This entity, although several lengths of duplicated fragment or mosaicism, is characterized by high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. The phenotypic pattern seems to be similar in all the patients, although the association of anomalies appears to be correlated to the extension of the duplicated fragments.