G. F. Davi

Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.

An 8‐year‐old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp Hodgkins ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.

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.

Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter→q2200::q3200→qter)

SummaryA newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46,XX,der(7)mat). The patients mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to those in the two cases already described.

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.

Radiological features in trisomy 8.

Radiological study may prompt the correct diagnosis of Trisomy 8 mosaicism when the clinical features are mild and could be overlooked. Skeletal features characteristic of Trisomy 8 are found in the skull, elbows, spine, pelvis, hands and feet.

Kniest disease with Pierre Robin syndrome and hydrocephalus

A 3-month-old male infant with clinical and radiological features of Kniest disease is reported. Additional findings were severe Pierre Robin syndrome and external hydrocephalus. The patient was retarded in mental and motor development. He died at 4 months of age from the complications of tracheostomy. The parents were both normal clinically and radiologically, thus the disease in the child was presumably due to a new mutation. The reported familial cases of Kniest disease suggest autosomal dominant inheritance. The differential diagnosis is discussed in detail.

The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism.

ABSTRACT. Cirillo Silengo M., Davi, G. F., and Franceschini, P. (the Clinical Genetics Center, First Paediatric Clinic, University of Turin, Turin, Italy). The 49 XXXXX syndrome. Acta Paediatr Scand, 68: 769, 1979.—A patient with 48 XXXX/49 XXXXX mosaicism is presented. Clinical findings include severe growth and developmental retardation, hypertelorism, mongoloid slant of the palpebral fissures, clinodactyly of the fifth fingers, retarded bone age and radio‐ulnar synostosis. The findings are similar to those of the cases with a penta‐X chromosome complement already described, and are also similar to the signs of the more common 49 XXXXY syndrome of males. In both instances the dysmorphic features are less impressive than the mental retardation and the skeletal malformations. This report contributes to a better delineation of the 49 XXXXX syndrome. The possible mechanisms of the chromosomal aberration are discussed.