M. Cirillo Silengo

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.

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.

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.

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.

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.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Array‐comparative genomic hybridization (array‐CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID).