Letter to the Editor
Is There a Relation Between Klippel-Feil Sequence and Kallmann Syndrome?
To the Editor:
The Klippel-Feil sequence is a well delineated disorder in which the patients present with congenital block formation of cervical vertebrae. These patients often have associated manifestations in particular involuntary mirror movements or unilateral renal agenesis (URA) [Helmi and Pruzansky, 19801. These 2 abnormalities are also common in a completely different genetic disorder: X-linked Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia. The similarity between the associated manifestations in the two entities suggests the possibility of a similar cause.
KLIPPEGFEIL SEQUENCE
Klippel-Feil sequence is a well-delineated disorder in which the typical patients present with congenital block formation of several cervical vertebrae, short neck, limitation of neck movements, and often additional skeletal defects. Approximatively 50% of the patients with Klippel-Feil sequence have neurological symptoms related, in most cases, to the upper limbs, the head, and the neck [Helmi and Pruzansky, 19801. A common neurological manifestation is synkinesis or mirror movements of the limbs [Baird et al., 19671. Renal anomalies may be found in 70% of the patients with Klippel-Feil sequence including URA [Moore et al., 19751. The genital anomalies found in affected females with the syndrome reflect the failure of Mullerian duct formation and are almost always present in women with Klippel-Feil sequence with URA. Anomalies of the male genital tract have been reported and include hypospadias and cryptorchidism. Other associated anomalies include cleft palate, speech defects, and congenital heart malformations [Helmi and Pruzansky, 19801. Most reports of patients with the Klippel-Feil sequence are incomplete as for details concerning synkinesis and/or renal defects. In addition, large studies do no give details on each individual. Thus, it was not possible to determine whether mirror movements and URA do or do not occur together with an increased fre-