Polysyndactyly

Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 3

                       


(per page)
PMID (PMCID)
10406666
 FEMALE
A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome.
Oostra RJ, Dijkstra PF, Baljet B, Verbeeten BW, Hennekam RC.
Am J Med Genet. 1999;85(2):134-9.
The specimen described here dated from 1881 and presented with a general embryonic appearance, disproportionate short stature, brachycephaly, widened cranial sutures, hypertelorism, microphthalmia, bilateral cleft lip and palate, micrognathia, short and curved limbs, polysyndactyly, and abnormal female genitalia.
10190476
 FEMALE Infant, Newborn
Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant?
Fujiwara I, Kondo Y, Iinuma K.
Am J Med Genet. 1999;83(2):77-81.
We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty.
9571282
 MIXED_SAMPLE
Syndactyly, micrognathia and skeletal anomalies: a new syndrome?
McGaughran J, Moore L, Russell S, Donnai D.
Clin Dysmorphol. 1998;7(2):119-22.
We report a fetus with micrognathia, cleft palate, polysyndactyly, brachycephaly and proximal radial hypoplasia.