Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report

Figure 1 Clinical findings and radiographic abnormalities in a patient with a heterozygous SEMA3A gene mutation (c. 950A>G). The patient was 26 years old. A: He exhibited a short neck; facial moles; knee valgus; transverse palm; continuous grade 5/6 murmurs in the pulmonary auscultation area; no whiskers,or pubic hair; no Adam’s apple; short penis and cryptorchidism; B: Pituitary magnetic resonance imaging (MRI) showed pituitary dysplasia; C, D: Pelvic MRI showed the following: (1) Pelvic genitourinary dysplasia, in which (1) The prostate and bilateral seminal vesicles were not clearly shown; (2) The bilateral groin had soft tissue nodules and testicular hypoplasia; and (3) Penile dysplasia was observed, and (B) a pelvic bone that was not closed; E: Left wrist orthotopic X-ray (bone age of 15 years).