ABSTRACT
We describe a 23-year-old woman with growth and mental retardation, hypoplasia of the nails and distal phalanges, particularly of the fifth fingers and toes, hirsutism, and a "coarse" face with large mouth and large tongue, and bushy eyebrows. Follow-up from birth to adulthood showed that developmental delay and hypoplasia of nails and distal phalanges are permanent signs. Sparse scalp hair, hypotonia, and feeding difficulties were present in early infancy. Later, growth retardation, hirsutism, and a "coarse" face with midface hypoplasia, broad nose, and large mouth became more impressive. Differential diagnosis includes a number of conditions, particularly Coffin-Siris syndrome, which is the most likely but not completely convincing diagnosis. Therefore, this woman might represent a variant of Coffin-Siris syndrome or a new entity.
Subject(s)
Abnormalities, Multiple/genetics , Intellectual Disability/genetics , Adult , Female , Growth Disorders/genetics , Humans , Nail Diseases/genetics , SyndromeABSTRACT
We report on two unrelated mentally retarded girls aged 14 and 24 years with short stature and strikingly similar craniofacial dysmorphisms. Whether they share the same entity or different unknown syndromes remains an open question.
Subject(s)
Abnormalities, Multiple/genetics , Craniofacial Abnormalities/genetics , Dwarfism/genetics , Intellectual Disability/genetics , Abnormalities, Multiple/diagnosis , Adolescent , Adult , Craniofacial Abnormalities/diagnosis , Diagnosis, Differential , Dwarfism/diagnosis , Female , Follow-Up Studies , Humans , Intellectual Disability/diagnosis , SyndromeABSTRACT
We report on a young man with a syndrome of mental retardation, abnormalities of the brain, sensorineural deafness, hypospadias, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, and abnormal dermatoglyphics. This appears to be a previously undescribed MCA/MR syndrome.
