Craniosynostosis and unilateral ulnar aplasia

An unusual type of acrocephalosyndactyly with bilateral parietooccipital “encephalocele”, micropenis, and severe mental retardation

“…Protrusion of tissue through the parietal foramina was absent in this patient. Calabro et al [1985] reported on a patient with craniostenosis and micropenis. This patient has also an aplasia of the ulna.…”

Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: A new syndrome?

“…A search of the London Dysmorphology Database [Winter and Baraitser, 19921 documented a number of other syndromes with some overlap with that of our infant [Woon et al, 1980;Christian et al, 1971;Calabro et al, 1985;Pfeiffer et al, 19871. However, the specific combination of anomalies present in this South African boy appears to be unique.…”