Catel???Manzke syndrome: A case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome?

Abstract

An unusual case of a female infant with Catel-Manzke syndrome is presented. Additional features not previously reported include three accessory ossicles at the bases or associated with the proximal phalanx of the index, middle, ring and little fingers bilaterally. There are also numerous bony abnormalities in both feet. Previous cases have shown no more than 2 accessory ossicles in the hand and these usually involve the index alone. The foot abnormalities are more extensive than any previously seen in this syndrome. This is only the 8th female case out of a total of 27 reported cases.

Homo‐ and hetero‐stereocomplexes of substituted poly(lactide)s as promising biodegradable crystallization‐accelerating agents of poly(L‐lactide)

“…Pierre Robin sequence, which is an associated finding in about 80% of cases, is normally a combination of micrognathia and glossoptosis, with or without cleft palate [Sheffield et al, 1987]. Not all patients affected with Catel–Manzke syndrome show the full range of this sequence [Thompson and Winter, 1986; Puri and Phadke, 2003; Clarkson et al, 2004; Manzke et al, 2008]. Therefore, we agree with Manzke et al [2008] that the term “palato‐digital syndrome” is incorrect and should be replaced by the term “micrognathia‐digital syndrome” if an alternative to Catel–Manzke is to be preferred.…”

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus

“…The reported fetus shows phenotypic similarities to a patient reported by Clarkson, Homfray, Heron and Moss (), presenting with multiple accessory ossicles and short halluces, first diagnosed with Catel–Manzke syndrome, but later reclassified as TPBS (Temtamy, ). Several authors have pointed out the phenotypic overlap of Catel–Manzke syndrome to Desbuquois dysplasia 1 (DBQD1; MIM 251450), Temtamy brachydactyly syndrome (TPBS; MIM 605282), and chondrodysplasia with joint dislocations, GPAPP type (GPAPP deficiency; MIM 614078) (Clarkson et al, ; Kiper et al, ; Nizon et al, ; Shohat et al, ; Temtamy, ). These conditions have to be considered as differential diagnosis in fetuses with micrognathia and finger malposition.…”

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

“…Temtamy commented on a severe case described by Clarkson et al [] presenting with hyperphalangism at the bases of the proximal phalanges of the index, middle, ring, and little fingers bilaterally and bony abnormalities of the feet. The case had sensorineural deafness with normal neurodevelopment and was born to consanguineous Pakistani parents.…”