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At a glance

Hydrometrocolpos develops in females and is associated with anomalies of the limbs (postaxial polydactyly) and congenital heart malformation. However, the same presentation associated with urogenital anomalies (eg, hypospadias, prominent scrotal raphe) has been reported in males.

Synonyms

MKKS; Hydrometrocolpos Syndrome; Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation; Kaufman-McKusick Syndrome.

History

This medical condition was named after Robert L. Kaufman (b. 1937), an American geneticist, and Victor A. McKusick (1921-2008), an American internist and medical geneticist and Professor of Medicine at the Johns Hopkins Medical School in Baltimore. This syndrome was first described by Dr McKusick in 1964. Subsequently, Dr Kaufman published a comprehensive description in 1972. Dr McKusick was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and OMIM. He is internationally known as the “father of medical genetics.”

Incidence

The exact incidence remains unknown. There are approximately 100 cases described in the literature.

Genetic inheritance

Autosomal recessive; probably caused by a mutation. It has the same map locus (chromosome 20p12) and is similar to the Bardet-Biedl Syndrome.

Pathophysiology

Hydrometrocolpos develops in the female fetus. It is a result of transverse vaginal membranes and excessive cervical secretions in response to maternal hormone. Intrauterine maternal hormone stimulation causes cervical gland secretion, which, in association with high vaginal obstruction, results in hydrometrocolpos. External compression of ureters by hydrometrocolpos may cause hydroureter and hydronephrosis. McKusick-Kaufman Syndrome is associated with predicted protein that show amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac, and reproductive system development.

Diagnosis

Clinically and by gene mapping.

Clinical aspects

Female infants usually present with intraabdominal swelling (hydrometrocolpos) arising from the pelvis. This is associated with other abnormalities, including imperforate anus, malrotation of the gut, polydactyly, syndactyly, obesity, and congenital heart disease (septal defects). Less common features are abnormalities of the upper airway (larynx), pituitary dysplasia, and developmental delay. Males usually present with isolated polydactyly, but cryptorchidism and hypospadias have been described. Ellis van Creveld Syndrome may be a phenotype for the male.

Precautions before anesthesia

Some patients with Bardet-Biedl Syndrome are described but never with the McKusick-Kaufman Syndrome. Consequently, each system involved should be assessed, and good preoperative evaluation of the kidneys, larynx, and heart is advisable. Evaluation of cardiovascular system must include echocardiogram. Preoperative abdominal and renal ultrasonography. Evaluation of renal function with electrolytes, urea, and creatinine.

Anesthetic considerations

Direct laryngoscopy and tracheal intubation can be difficult if laryngeal anomalies are present. Neonates with severe hydrometrocolpos may present with diaphragm compression necessitating gastric decompression. Most patients will ...

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