[Orofaciodigital syndrome associated with agenesis of the pituitary gland].

Oral-facial digital syndrome (OFDS) consists of a group of heterogeneous genetic disorders with different patterns of inheritance. These disorders share facial, oral and digital abnormalities. At least 11 types of this syndrome have been described (I-IX) and the association between OFDS type II and absent pituitary has recently been reported in the case of two brothers.

OBJECTIVE

1. To describe the case of patients with OFDS associated with the absence of the hypophysis and panhypopituitarism. 2. To analyse whether the association between the agenesis of the hypophysis with OFDS represents a new type of this syndrome.

METHODS

An 11-month-old male infant presented with a malformation syndrome with oral (Gothic palate, lobulated tongue with lateral frenulae and hamartomas) facial (a small nose with flattened nasal root and hypoplastic nostrils, small facial skeleton, high forehead, low-implanted ears, stenosis of the choana) and digital malformations (poly- and clinodactyl hands and feet) typical of OFDS. In addition to these findings, at the age of 11 months he had growth retardation (length - 5.9 SD), obesity, mild psychomotor delay, a single upper incisor, micropenis and undescended testes. Endocrinologic studies showed combined GH, TSH, LH and FSH deficiency. Cranial magnetic resonance imaging showed a smooth sella turcica, lacking the pituitary gland, and the absence of the normal sign of neurohypophysis. Replacement therapy with GH and 1-thyroxine was started.

CONCLUSIONS

We report a patient with the clinical characteristics of OFDS type II, associated with the absence of hypophysis and panhypopituitarism.

CONCLUSIONS

The infrequent association of agenesis of the pituitary gland and panhypopituitarism with OFDS, and the previous report of two brothers with this syndrome and the same association, suggests that this is a new type of OFDS.