β Scribed by Fryns, Jean-Pierre
No coin nor oath required. For personal study only.
In this journal, Oostra et al. [1998] reported on the distinct MCA syndrome in a plaster cast of a presumably term newborn female with macrocephaly, midface hypoplasia, short upper lip, macrostomia secondary to bilateral orofacial clefting, low-set small malformed ears, micrognathia, severe hypoplasia of upper limbs with finger-like vestiges at the shoulders without recognizable arms, absence of legs with feet, and three toes on the left side and two on the right side, immediately attached to the pelvic girdle. The authors considered the condition to be a severe type of acrofacial dysostosis. They also noted striking similarities with some of the six presently known cases of acrofacial dysostosis with facial clefting and limb deficiency [Winter and and concluded that the phenotype of this malformed female newborn is a severe expression of Nager syndrome because one of the reported cases in the London Dysmorphology Database was born to a woman with the classical phenotype of Nager syndrome, an autosomal dominant acrofacial dysostosis syndrome (MIM: 154400).
However, I feel that the differential diagnosis is not so unequivocal. RodrΔ± Β΄guez et al. presented strong evidence for another apparently lethal form of acrofacial dysostosis characterized by mandibulofacial dysostosis, severe limb deficiency (with variable degree of tetraphocomelia and pre-and postaxial limb deficiencies), and complex internal mal-
π SIMILAR VOLUMES
The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a del
Table ), using the proposed definitions (Table ). This proposed classification was tested on examples provided by several of the registries of congenital anomalies participating in the study of limb deficiencies. All examples fit well into the proposed classification.
**Lucy Berberian is busy preparing her family's Mediterranean restaurant for Easter on the Jersey Shore--but a batch of sweets is to die for . . .** Bikers are thundering into the seaside town of Ocean Crest for the annual Bikers on the Beach gathering that raises funds for injured veterans. It's
We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/post