M. Biagioli

Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases

Two patients with the oro‐facial‐digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib‐polydactyly skeletal dysplasia with orofacial findings almost identical to those of the Mohr syndrome. Phenotypic overlap between the Mohr and the Majewski syndromes has already been reported in the literature, and it has been suggested that the two syndromes may be mild and severe expressions of the same autosomal recessive disorder. Our two cases give further support to this hypothesis.

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation

Three cases of interstitial deletion of the long arm of chromosome 2 have been described up to date (Warter et al. 1976; Fryns et al. 1977; Taysi et al. 1981). The deleted segment was different in each instance, and so was the phenotype. We have observed an l 1-year-old female with a 2q31q33 deletion (Fig. 1) and the following clinical findings: mental retardation, short stature, microphthalmia, ptosis, antimongoloid slant of the palpebral fissures, cleft palate prominent nose, maxillary and mandibular hypoplasia, camptodactyly of the third, fourth and fifth fingers, hyperextensible index fingers, and syndactyly of the second, third, fourth and fifth toes (Fig. 2). Although the cytogenetic finding appears to be the same as in the patient described by Taysi et al. (1981), our patient also shares clinical symptoms with the other two cases with different 2q deletion. Obviously, many more cases are required to establish a genotype-phenotype correlation. We are interested in information on such cases.

Heart-hand syndrome. II, A report of Tabatznik syndrome with new findings

The association of upper limb malformations and congenital cardiac anomalies was established as a definite clinical and genetic entity by Holt & Oram in 1960. Significant variability of malformations in both the upper limbs and the cardiovascular system has been well documented. In 1978, Temtamy & McKusick reported a family studied by Tabatznik, in which upper limb deformities, including type D brachydactyly, occurred in association with cardiac arrhythmias as a dominant, either autosomal or X‐linked trait. They called this apparently new entity Heart‐Hand syndrome II to distinguish it from the Holt‐Oram syndrome. No other similar cases have subsequently been reported. We describe here the second family affected with the Tabatznik syndrome and add some new findings to the clinical spectrum of this condition.

Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity

An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10‐month‐old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and “butterfly‐shaped” vertebrae.

Distinctive skeletal dysplasia in Cockayne syndrome

Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearence. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvment of the spine.

Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

To our knowledge, no cases of deletion of the long arm of chromosome 3 have been described so far. We have recently observed a 20-year-old female with an interstitial deletion 3q23q26 (Fig. 1). Clinical features were: severe mental retardation, short stature, synophris of eyebrows, broad nose, full lips, multiple pigmented nevi, scoliosis, brachydactyly and deafness (Fig. 2). We are interested in receiving information from other cases.

Interstitial deletion of chromosome 1 (q23−q25), Report of a case

We describe a 3‐month‐old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23–25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease.

The Coffin-Siris syndrome in two siblings

Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.

Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance

Two patients with triphalangeal thumbs‐ectrodactyly syndrome are described.