Lenz Majewski Hyperostotic Dwarfism (LMHD) was first described by Braham RL, in 1969, in a paediatric patient with several clinical features identical to Camurati-Engleman syndrome, another hyperostotic disorder associated with unusual features of progeria, widened ribs, enamel dysplasia, webbed hands and brachysyndactyly.1 Another paediatric patient with strikingly similar characteristics of progeria, enamel hypoplasia, craniodiaphyseal hyperostosis, choanal atresia and symphalangism, was later reported by Lenz and Majewski.2 These malformations were subsequently compiled into a distinct entity, LMHD.
LMHD is a distinct form of craniotubular bone disorder characterized by disproportionately large head, craniotubular hyperostosis with wide open fontannels and delayed closure of sutures, ectodermal dysplasia that includes loose, atrophic/wrinkled skin with prominent veins on the scalp (Cutis laxa) and enamel hypolasia, brachymesophalangy with proximal symphalangism. Webbed fingers and toes, large floppy ears, choanal atresia, nasolacrimal duct obstruction, cryptorchidism and inguinal hernia are some of the other frequent clinical findings.
The skeletal changes of Lenz-Majewski syndrome previously reported, comprise of progressive hyperostosis of craniofacial bones, cortical thickening of diaphysis of tubular bones and brachymesophalangy with proximal symphalangism. In addition to these, our patient also presented with deformities of multiple bones (including short and deformed radius and ulna, short 5th metacarpal and deformed foot) and atypical skin tags involving the area of chest, forearm and anus.
orta falankslar kisa ve distal inter- falangeal (DIF) eklemlerin fleksiyon hareketi kisitli (symphalangism) bulundu (Sekil 2).
Eriskin hastamizda, ayni taraf elde orta falankslarda kisalik ve daha once klinikte veya literaturde bildirilen Poland sendromlu olgularda rastlamadigimiz interfalangeal eklem ankilozu (symphalangism) vardi.