Silver-Russell syndrome (SRS) (MIM 180860) is characterised by intrauterine and postnatal growth restriction, in association with dysmorphic features most frequently including a small triangular facies, skeletal asymmetry, and fifth finger clinodactyly. The genetic aetiology of SRS is heterogeneous. Maternal uniparental disomy for chromosome 7 (mUPD(7)) occurs in 7-10% of patients, 5 with stron...

Subjects with brachymesophalangia-5 (the short middle segment trait of the fifth digit) are systematically reduced in the length of the second metacarpal and in stature, by approximately 0.5 standard deviations, in contrast with unaffected individuals or unaffected siblings of affected propositi. There is conclusive evidence for axial and appendicular length reduction in affected individuals, a...

14 year-old male patient was referred to the endocrinology utpatient clinic for hypogonadism. He had an unremarkble family and personal history. He was born in China, and ad lived in Spain with his biological family since the age of hree. This boy was referred by the urology outpatient clinic ue to delayed genital development possibly due to hypergnadotropic hypogonadism with a total testostero...

EDITOR—The CHARGE association is an increasingly recognised pattern of congenital anomalies comprising colobomata, heart defects, choanal atresia, retarded growth and development, hypoplastic genitalia, and ear abnormalities/deafness. We report a case of CHARGE association with a de novo chromosomal aberration, 46,X,+der(X)t(X;2), which was detected by spectral karyotyping. The proband, an 11 y...

A 6-year-old girl of Irish, English, and French ancestry was referred to a pediatric neurologist for evaluation of developmental delay. She presented with expressive language delay with disarticulation. She did not speak in phrases until age 3, and formal testing revealed a language equivalent of 3 years 4 months when she was 5 years 6 months old (Clinical Evaluation of Language Fundamentals–Pr...

Silver-Russell syndrome (SRS) is characterised by preand postnatal growth restriction in association with other clinically recognised dysmorphic features such as triangular facies, asymmetry, and fifth finger clinodactyly. Since the major diagnostic features involve reduced growth, it is tempting to postulate that altered expression of a protein within a growth factor cascade may be causative. ...

EDITOR—Nijmegen breakage syndrome (NBS) (OMIM 251260) is a rare autosomal recessive condition. The major manifestations include microcephaly, a distinct facial appearance, growth retardation, recurring infections owing to combined immunodeficiency, spontaneous chromosomal instability (with characteristic rearrangements of chromosomes 7 and 14), hypersensitivity to ionising radiation, and a very...

Various chromosomal rearrangements are associated with the distal 8p region. Among them are the inv dup(8p), del(8p22), and del(8)(pter). The cardinal phenotypic features of the inv dup(8p) are brain malformations, severe mental retardation with specific involvement of speech, and minor facial dysmorphisms. Deletions (8p22) are associated with congenital heart malformations, thought to be cause...

In 1994, the complete human cDNA of an inwardly rectifying K channel gene, KCNJ2 or Kir2.1, was isolated. Kir2.1 channels are important regulators of resting membrane potential of the cardiac (and also skeletal) muscle and cellular excitability,1 since they cause an outflow of K in the hyperpolarized membrane state during the terminal phase of cardiac action potential repolarization. The cDNA e...

Hypospadias, when the urethral opening is located on the ventral side of the penis, is one of the most common congenital malformations with an incidence of 3 per 1000 males. Hypospadias is considered a complex trait caused by several genetic and environmental factors; low birth weight, for example, is associated with an increased risk for hypospadias. Most cases of hypospadias are sporadic but ...