# US 2013/0158437 A1 · System For Diagnosing and Identifying Genetic Features, Genetic and Congenital Syndromes And Developmental Abnormalities

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- Number: US 2013/0158437 A1
- Document ID: US20130158437A1
- Status: Published application
- Kind: A1
- Application number: 13/714,954
- Filed: 2012-12-14
- Published: 2013-06-20
- Earliest claimed: 2011-12-14
- Inventors: Sharon Moalem
- Web page: https://patentgrep.com/patent/US20130158437A1

## CPC

- A61B 5/107: Measuring physical dimensions, e.g. size of the entire body or parts thereof
- A61B 5/0035: {adapted for acquisition of images from more than one imaging mode, e.g. combining MRI and optical tomography}
- A61B 5/0075: {by spectroscopy, i.e. measuring spectra, e.g. Raman spectroscopy, infrared absorption spectroscopy (A61B5/0071 takes precedence)}
- A61B 5/0077: {Devices for viewing the surface of the body, e.g. camera, magnifying lens}
- A61B 5/1072: {measuring distances on the body, e.g. measuring length, height or thickness (A61B5/1076 takes precedence)}
- A61B 5/1075: {for measuring dimensions by non-invasive methods, e.g. for determining thickness of tissue layer (A61B8/0858 takes precedence)}
- A61B 5/7225: {Details of analogue processing, e.g. isolation amplifier, gain or sensitivity adjustment, filtering, baseline or drift compensation (input circuits for detecting, measuring, or recording bioelectric or biomagnetic signals A61B5/30; specific diagnostic methods using bioelectric or biomagnetic signals A61B5/316)}
- A61B 5/7246: {using correlation, e.g. template matching or determination of similarity}
- A61B 5/7282: {Event detection, e.g. detecting unique waveforms indicative of a medical condition (cough events A61B5/0823; seizures A61B5/4094; sleep apnoea A61B5/4818)}
- A61B 5/74: {Details of notification to user or communication with user or patient; User input means}
- A61B 6/03: Computed tomography [CT]
- A61B 6/5247: {combining images from an ionising-radiation diagnostic technique and a non-ionising radiation diagnostic technique, e.g. X-ray and ultrasound}
- A61B 8/0866: {involving foetal diagnosis; pre-natal or peri-natal diagnosis of the baby}
- A61B 8/13: Tomography (A61B8/10, A61B8/12 take precedence)
- A61B 8/5261: {combining images from different diagnostic modalities, e.g. ultrasound and X-ray}
- A61B 6/032: {Transmission computed tomography [CT]}
- A61B 6/508: {for non-human patients}
- A61B 6/5217: {extracting a diagnostic or physiological parameter from medical diagnostic data}
- A61B 8/00: Diagnosis using ultrasonic, sonic or infrasonic waves
- A61B 2503/02: Foetus
- A61B 2503/06: Children, e.g. for attention deficit diagnosis
- G06V 40/16: Human faces, e.g. facial parts, sketches or expressions
- A61B: DIAGNOSIS; SURGERY; IDENTIFICATION (usefulness limited to only animals A61D)
- G06V: IMAGE OR VIDEO RECOGNITION OR UNDERSTANDING

## Abstract

The invention is a system for diagnosing and identifying of genetic characteristics, genetic syndromes, congenital syndromes, developmental and exposure related syndromes, and veterinary breed characteristics in fetuses, children and adults, in humans and animals. The system takes a set of facial anatomical measurements of an individual target and biological relatives of the individual target, normalizes the facial anatomical measurements, and compares the normalized measurements with a database of set of anatomical features associated with a desired diagnostic data set.

## Claims

### Claim 1

A system for the identification and diagnosis of genetic features, genetic syndromes, congenital and developmental abnormalities of a human or animal target, the system comprising:
a first data collection module, capable of obtaining facial anatomical measurements of the target;
a database of data correlating facial anatomical measurements with a diagnostic data set;
a second data collection module, capable of obtaining facial anatomical measurements of biological relatives of the target;
a data filter module, capable of comparing the target's facial anatomical measurements with the facial anatomical measurements of the biological relatives to produce a filtered set of target facial measurements;
a data processing module, capable of comparing the filtered set of target facial anatomical measurements with the database; and
a reporting module, capable of providing a report of the comparison.

### Claim 2 (depends on 1)

The system of claim 1, where the diagnostic data set comprises genetic characteristics.

### Claim 3 (depends on 1)

The system of claim 1, where the diagnostic data set comprises genetic syndromes.

### Claim 4 (depends on 1)

The system of claim 1, where the diagnostic data set comprises congenital syndromes.

### Claim 5 (depends on 1)

The system of claim 1, where the diagnostic data set comprises developmental and exposure related syndromes.

### Claim 6 (depends on 1)

The system of claim 1, where the diagnostic data set comprises veterinary breed characteristics.

### Claim 7 (depends on 1)

The system of claim 1, further comprising:
a second data processing module, capable of comparing the anatomical measurements over time of the target.

### Claim 8 (depends on 1)

The system of claim 1, where at least one of the first and second data collection modules comprise at least one of ultrasound, two dimensional infrared detectors, three dimensional infrared detectors, two dimensional photography, three dimensional photography, video, MRI and CAT scans.

### Claim 9 (depends on 1)

The system of claim 1, where the data filtering module comprises a computer processor.

### Claim 10 (depends on 1)

The system of claim 1, further comprising
a data processing module for acquiring anatomical landmarks, mathematical landmarks and pseudo-landmarks from the target's facial anatomical measurements, and
comparing the acquired landmarks to a database of measurements appropriate for the target's age.