Patterson-Lowry rhizomelic dysplasia: report of two new patients.

We report two new patients with the Patterson-Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiological characteristics is significantly variable, but the unique proximal metaepiphyseal appearance of humeri makes the syndrome easily identifiable. All the reported patients are sporadic. The genetics of the syndrome remain unclear for the moment.

Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance.

Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome.

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.

Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and digital anomalies. We report on a new patient with the characteristic features of Filippi syndrome, comparing him with other reported cases and underlining the peculiar and specific shape of the nasal bridge. The metacarpophalangeal profile in our patient is also quite unusual and could be, if confirmed, a good marker of this syndrome.

A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics.

We describe a retarded female patient with distinct facial dysmorphism (round puffy cheeks, epicanthal folds, ocular hypertelorism, short broad nose, low set and slanted ears), joint laxity, clinodactyly, abnormal dermatoglyphics (bilateral absence of c palmar triradius and single palmar crease) and a peculiar metacarpophalangeal profile. The possibility of a new MCA/MR is discussed.

Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome).

We report on a patient with clinical manifestations consistent with a diagnosis of congenital onychodysplasia of the index fingers (COIF). This syndrome has been found mainly in Japan, and as far as we know, this is the first case reported in Italy. In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. The metacarpophalangeal profile showed a generalized brachydactyly with all the hand long bones below x3 SD. The patient's father showed a peculiar kind of micronychia on both the fifth toes, suggesting a possible autosomal dominant transmission of the syndrome. In utero ischemia of the palmar digital artery and a dysplastic change in the crescent-shaped cap of the distal phalanx are the two main candidate pathogenetic mechanisms that have been proposed. In our opinion, the gradual broadening of the spectrum of this syndrome brings support to the hypothesis of a basal dysplastic pathogenetic mechanism involving not only the index fingers but also perhaps other tissues outside. We think that for the moment the definition of COIF for this syndrome should be maintained, the alternative proposed term "congenital onychodysplasia" being too indefinite.

Prenatal diagnosis of kyphomelic dysplasia.

Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD. A review of 19 previously reported patients with KD is also presented.

Arterial tortuosity syndrome.

We describe a patient with arterial tortuosity syndrome (ATS), a rare disorder comprising generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and of intracranial arteries. The patient's probably affected brother and sister died at an early age. Cytochemical studies excluded Ehlers-Danlos type IV and type VII syndromes. We review 11 previously described patients.

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Radioulnar synostosis and XYY syndrome.

Radioulnar synostosis in a boy with XYY syndrome is discussed. Only four other cases of radioulnar synostosis with XYY syndrome have been reported in the literature.

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Costello syndrome. This suggests that an increased risk of malignancy may be part of this condition.

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.

Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.

[Neonatal weight: an analysis of the distribution]. / Peso neonatale: analisi della distribuzione.

We examined birthweight distribution in relation to gestational age from 25 to 42 weeks in a series of 3.526 single newborns and in whom reliability of gestational age was rigorously controlled. To verify the distribution normality the Shapiro-Wilk and the Kolmogorov tests have been applied. Birthweight data follow a gaussian distribution for each gestational age week. Therefore in the birthweight standards estimation the parametric method can safely be applied also when the series includes pathologic and preterm newborns.

[The efficacy of aztreonam in a "bolus dose" in the therapy of urinary tract infections in neonates]. / Efficacia dell'aztreonam in "bolus dose" nella terapia delle infezioni delle vie urinarie nel neonato.

A "bolus dose" of aztreonam was used to treat a sample group of 46 neonates suffering from urinary tract infections caused by bacteria thought to be sensitive to aztreonam. This treatment proved efficacious in approximately 80% of cases.